512 results on '"M. Le Merrer"'
Search Results
2. Osteocondrodisplasias letales
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M. Le Merrer
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- 2016
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3. Condrodisplasias responsables de insuficiencia estatural
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M. Le Merrer
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- 2016
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4. Osteopatías con alteraciones de la densidad ósea
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M. Le Merrer
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0301 basic medicine ,Physics ,03 medical and health sciences ,030104 developmental biology ,Humanities - Abstract
Las enfermedades oseas constitucionales son la consecuencia de anomalias de la estructura del hueso o del cartilago, en su mayoria de origen genetico. Causan deformaciones de los huesos, reduccion de la velocidad de crecimiento o anomalias de la densidad osea, que puede ser insuficiente (transparencia) o excesiva (densificacion). El resultado es una mayor fragilidad del esqueleto. La mas conocida de estas afecciones es la osteogenesis imperfecta o enfermedad de los huesos de cristal, de fenotipo muy variable. La demostracion de mutaciones en diversos genes que se expresan en el hueso ha permitido comprender mejor las fragilidades oseas y avanzar de forma notable en su tratamiento.
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- 2016
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5. Level-set simulations of a 2D topological rearrangement in a bubble assembly: effects of surfactant properties
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A. Titta, Peter D. M. Spelt, Anne-Laure Biance, M. Le Merrer, François Detcheverry, Institut Lumière Matière [Villeurbanne] (ILM), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Mecanique des Fluides et d'Acoustique (LMFA), École Centrale de Lyon (ECL), Université de Lyon-Université de Lyon-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), and Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Centre National de la Recherche Scientifique (CNRS)
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Materials science ,Marangoni effect ,Biot number ,Capillary action ,Mechanical Engineering ,Bubble ,Péclet number ,Condensed Matter Physics ,Topology ,01 natural sciences ,010305 fluids & plasmas ,[SPI.MECA.MEFL]Engineering Sciences [physics]/Mechanics [physics.med-ph]/Fluids mechanics [physics.class-ph] ,Surface tension ,Physics::Fluid Dynamics ,Condensed Matter::Soft Condensed Matter ,symbols.namesake ,Rheology ,Mechanics of Materials ,0103 physical sciences ,symbols ,010306 general physics ,Dispersion (chemistry) - Abstract
A liquid foam is a dispersion of gas bubbles in a liquid matrix containing surface-active agents. Its flow involves the relative motion of bubbles, which switch neighbours during a so-called topological rearrangement of type 1 (T1). The dynamics of T1 events, as well as foam rheology, have been extensively studied, and experimental results point to the key role played by surfactants in these processes. However, the complex and multiscale nature of the system has so far impeded a complete understanding of the mechanisms involved. In this work, we investigate numerically the effect of surfactants on the rheological response of a 2D sheared bubble cluster. To do so, a level-set method previously employed for simulation of two-phase flow has been extended to include the effects of surfactants. The dynamical processes of the surfactants – diffusion in the liquid and along the interface, adsorption/desorption at the interface – and their coupling with the flow – surfactant advection and Laplace and Marangoni stresses at the interface – are all taken into account explicitly. Through a systematic study of the Biot, capillary and Péclet numbers that characterise the surfactant properties in the simulation, we find that the presence of surfactants can affect the liquid/gas hydrodynamic boundary condition (from a rigid-like situation to a mobile one), which modifies the nature of the flow in the volume from a purely extensional situation to a shear. Furthermore, the work done by surface tension (the 2D analogue of the work by pressure forces), resulting from surfactant and interface dynamics, can be interpreted as an effective dissipation, which reaches a maximum for a Péclet number of order unity. Our results, obtained at high liquid fraction, should provide a reference point, with which experiments and models of T1 dynamics and foam rheology can be compared.
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- 2018
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6. Comment on 'Repulsion between calcite crystals and grain detachment during water-rock interaction' by Levenson and Emmanuel, 2017
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Jean Colombani, M. Le Merrer, Institut Lumière Matière [Villeurbanne] (ILM), Université Claude Bernard Lyon 1 (UCBL), and Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)
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Calcite ,Piednoir ,dalbY ,[PHYS.PHYS.PHYS-FLU-DYN]Physics [physics]/Physics [physics]/Fluid Dynamics [physics.flu-dyn] ,Materials science ,PaChon-rodriguez ,Geology ,k.n ,T. (2015) Repulsive hydration ,chemistry.chemical_compound ,146102 røYne ,chemistry ,a ,hassenkam ,Geochemistry and Petrology ,Chemical physics ,J. (2011) Pressure solution at the molecular scale. Physical Review Letters 107 ,Environmental Chemistry ,Colombani ,[PHYS.MECA.MEFL]Physics [physics]/Mechanics [physics]/Fluid mechanics [physics.class-ph] ,[PHYS.COND.CM-SCM]Physics [physics]/Condensed Matter [cond-mat]/Soft Condensed Matter [cond-mat.soft] ,e.a - Abstract
International audience; forces between calcite surfaces and their effect on the brittle strength of calcite-bearing rocks. Geophysical Research Letters 42, 4786-479.
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- 2017
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7. Characterization and prevalence of severe primary IGF1 deficiency in a large cohort of French children with short stature
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G. Pinto, M. Le Merrer, A Colmenares, C Thalassinos, K Lambot-Juhan, C Pauwels, Hélène Crosnier, A. Simon, Hanane Latrech, Jean-Claude Souberbielle, Michel Polak, Valérie Cormier-Daire, Jacques Beltrand, Geneviève Baujat, R Teissier, I. Flechtner, and Dinane Samara-Boustani
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Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Percentile ,Adolescent ,Pediatric endocrinology ,Hearing Loss, Sensorineural ,Endocrinology, Diabetes and Metabolism ,Severity of Illness Index ,Short stature ,Cohort Studies ,Young Adult ,Endocrinology ,Prevalence ,Humans ,Medicine ,Insulin-Like Growth Factor I ,Child ,Prospective cohort study ,Growth Disorders ,business.industry ,Infant, Newborn ,Infant ,General Medicine ,medicine.disease ,Body Height ,Idiopathic short stature ,Child, Preschool ,Etiology ,Small for gestational age ,Female ,Observational study ,France ,medicine.symptom ,business - Abstract
ObjectiveThe prevalence of severe primary IGF1 deficiency (IGFD) is unclear. IGFD must be identified promptly as treatment with recombinant human IGF1 (rhIGF1) is now available. Our objective was to characterize and assess the prevalence of severe primary IGFD in a large cohort of patients evaluated for short stature at a pediatric endocrinology unit in France.DesignObservational study in a prospective cohort.MethodsConsecutive patients referred to our unit between 2004 and 2009 for suspected slow statural growth were included. Patients were classified into eight etiological categories. IGFD was defined by height ≤−3 SDS, serum IGF1 levels ResultsOut of 2546 patients included, 337 (13.5%) were born small for gestational age and 424 (16.9%) had idiopathic short stature. In these two categories, we identified 30 patients who met our criterion for IGFD (30/2546, 1.2%). In these 30 patients, we assessed the response to IGF1 generation test, time course of IGF1 levels, and efficiency of GH replacement therapy. The results indicated that only four of the 30 children were definite or possible candidates for rhIGF1 replacement therapy.ConclusionThe prevalence of severe primary IGFD defined using the standard criterion for rhIGF1 treatment was 1.2%, and only 0.2% of patients were eligible for rhIGF1 therapy.
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- 2014
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8. Three-dimensional helical computed tomography in prenatal diagnosis of fetal skeletal dysplasia
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Jelena Martinovic, Bruno Carbonne, Caroline Elie, M.-C. Aubry, Valérie Cormier-Daire, G. Macé, Yves Dumez, Alexandra Benachi, M. Le Merrer, Pascale Sonigo, Marie Gonzales, and Francis Brunelle
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medicine.medical_specialty ,Fetus ,Pregnancy ,Radiological and Ultrasound Technology ,business.industry ,Ultrasound ,Obstetrics and Gynecology ,Prenatal diagnosis ,Autopsy ,Retrospective cohort study ,General Medicine ,medicine.disease ,Reproductive Medicine ,Dysplasia ,Micromelia ,medicine ,Radiology, Nuclear Medicine and imaging ,Radiology ,business - Abstract
Objectives (1) To study the use and diagnostic value, as a complement to ultrasound, of helical computed tomography (helical CT) to differentiate normal fetuses from cases of skeletal dysplasia; (2) to define the most relevant indications for helical CT; and (3) to evaluate its diagnostic performance with respect to radiological criteria considered discriminatory. Methods This was a retrospective study from 2005 to 2008 in 67 pregnant women who underwent helical CT after 26 weeks of gestation for suspected fetal skeletal dysplasia due to fetal shortened long bones on ultrasound (≤ 10thpercentile), either alone or associated with other bone abnormalities. The results were compared with pediatric examinations in 41 cases and with fetal autopsy findings after elective termination of pregnancy in the others. Results Helical CT had a sensitivity of 82%, specificity of 91% and positive and negative predictive values of 90% and 83%, respectively, for diagnosis of fetal skeletal dysplasia. An etiological diagnosis that had not been suspected at ultrasound was specified in 15% of cases and diagnoses suspected at ultrasound were confirmed in 24% and discounted in 43% of cases. The prevalence of skeletal dysplasia was increased in cases of micromelia < 3rd percentile or if there was a combination of bone signs. Helical CT showed 69% sensitivity in identifying individual predefined pathological bone signs which were confirmed on fetal autopsy findings. Conclusion Helical CT is a key examination, in combination with ultrasound, in the diagnosis of fetal skeletal dysplasia from 26 weeks of gestation. It should be reserved for cases with severe micromelia below the 3rd percentile and for those with micromelia ≤ 10th percentile associated with another bone sign. A checklist of discriminatory signs is proposed. Copyright © 2012 ISUOG. Published by John Wiley & Sons Ltd.
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- 2013
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9. Maladies osseuses constitutionnelles
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M. Le Merrer
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Biology - Published
- 2011
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10. Enfermedades óseas constitucionales
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M. Le Merrer
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Philosophy ,Humanities - Abstract
Las enfermedades oseas constitucionales son un conjunto heterogeneo de afecciones causantes de insuficiencia estatural o de anomalias de la estructura del hueso, que pueden ir acompanadas o no por deformaciones. Tambien pueden incluirse las disostosis, que se manifiestan por malformaciones de uno o varios huesos, a veces con malformaciones viscerales o retraso mental. Las osteocondrodisplasias pueden agruparse segun su manifestacion clinica: condrodisplasias letales, osteopatias detectadas en el nacimiento a partir de una micromelia, una insuficiencia estatural global u otra malformacion, condrodisplasia diagnosticada durante la infancia o la adolescencia o con arqueamientos diafisarios o anomalias de desarrollo del cartilago y el tejido fibroso. Un lugar aparte debe reservarse a las anomalias de la estructura osea, con transparencia excesiva, como en las osteogenesis imperfectas o con aumento de la densidad del hueso, cuyo mejor ejemplo son las osteopetrosis. Se han identificado los genes de la mayoria de estas anomalias oseas constitucionales. Pueden expresarse en la matriz cartilaginosa u osea, durante la proliferacion celular o durante la diferenciacion celular. La identificacion de los genes ha revelado recientemente que la gravedad del fenotipo puede depender de la localizacion y del tipo de la mutacion en el gen y que afecciones muy distintas, letales o compatibles con un morfotipo moderado, pueden ser secundarias a mutaciones de un mismo gen. Por el contrario, entidades clinicas muy bien individualizadas pueden ser la consecuencia de mutaciones de genes muy distintos y pertenecientes o no a una misma via de senalizacion. Esto ha llevado a definir grupos de enfermedades en funcion del gen implicado y a identificar cuadros malformativos especificos para cada gen.
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- 2011
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11. Les tests génétiques à l’heure de la deuxième révision des lois de bioéthique
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M. Le Merrer, Dominique Stoppa-Lyonnet, Dominique Bonneau, Marie Gonzales, Sylvie Manouvrier, Hagay Sobol, Sandrine Marlin, P. Malzac, Sylvie Odent, Jean-Michel Dupont, Damien Sanlaville, and Ferechté Razavi
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medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,Medical screening ,Prenatal diagnosis ,Late onset ,General Medicine ,Bioethics ,3. Good health ,03 medical and health sciences ,0302 clinical medicine ,030225 pediatrics ,Family medicine ,medicine ,Genomic medicine ,030212 general & internal medicine ,Population screening ,business ,Genetic testing - Abstract
This article focuses on six questions raised by genetic testing in human: (1) the use of genetic tests, (2) information given to relatives of patients affected with genetic disorders, (3) prenatal and preimplantatory diagnosis for late onset genetic diseases and the use of pangenomic tests in prenatal diagnosis, (4) direct-to-consumer genetic testing, (5) population screening in the age of genomic medicine and (6) incidental findings when genetic testing are used.
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- 2010
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12. Autosomal dominant spondylocarpotarsal synostosis syndrome: Phenotypic homogeneity and genetic heterogeneity
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Antoine Hamel, C Le Caignec, M. Le Merrer, Sébastien Jacquemont, Valérie Cormier-Daire, Bertrand Isidor, T. Lefrancois, and Albert David
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Adult ,Male ,Clinodactyly ,Filamins ,Genetic counseling ,Biology ,Compound heterozygosity ,Short stature ,Contractile Proteins ,Genetics ,medicine ,Humans ,FLNB ,Child ,Genetics (clinical) ,Genes, Dominant ,Tarsal synostosis ,Genetic heterogeneity ,Microfilament Proteins ,Tarsal Bones ,Hand Deformities ,Synostosis ,medicine.disease ,Spine ,Pedigree ,Radiography ,Phenotype ,Mutation ,Female ,medicine.symptom - Abstract
Spondylocarpotarsal synostosis syndrome (SCT) (OMIM 272460), originally thought to be a failure of normal spine segmentation, is characterized by progressive fusion of vertebras and associates unsegmented bars, scoliosis, short stature, carpal and tarsal synostosis. Cleft palate, sensorineural or mixed hearing loss, joint limitation, clinodactyly, and dental enamel hypoplasia are variable manifestations. Twenty-five patients have been reported. Thirteen affected individuals were siblings from six families and four of these families were consanguineous. In four of those families, Krakow et al. [Krakow et al. (2004) Nat Genet 36:405-410] found homozygosity or compound heterozygosity for mutations in the gene encoding FLNB. This confirmed autosomal recessive inheritance of the disorder. We report on two new patients (a mother and her son) representing the first case of autosomal dominant inheritance. These patients met the clinical and radiological criteria for SCT and did not present any features which could exclude this diagnosis. Molecular analysis failed to identify mutations in NOG and FLNB. SCT is therefore, genetically heterogeneous. Both dominant and autosomal recessive forms of inheritance should be considered during genetic counseling.
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- 2008
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13. Condrodisplasias responsables de insuficiencia estatural
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M. Le Merrer and V. Cormier-Daire
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Physics ,Humanities - Abstract
Las enfermedades oseas constitucionales forman un grupo heterogeneo de patologias responsables de insuficiencia estatural o de anomalias de la estructura de los huesos asociadas o no a deformaciones. El acortamiento relativo de los miembros (micromelia) y la insuficiencia estatural global son los motivos mas frecuentes de consulta. La identificacion precisa de la patologia osea lo mas precozmente posible permite aportar un pronostico evolutivo, orientar el tratamiento y proponer terapeuticas apropiadas. Tambien permite proponer un consejo genetico o un diagnostico prenatal detallado para un embarazo futuro. Los genes de la mayoria de estas anomalias oseas constitucionales se han identificado. Se pueden expresar en la matriz cartilaginosa o en la osea, durante la proliferacion celular o la diferenciacion celular. La identificacion de los genes ha puesto de manifiesto recientemente que la gravedad del fenotipo puede depender de la ubicacion y del tipo de la mutacion en el gen y que patologias muy diferentes, letales o compatibles con un morfotipo moderado, pueden ser secundarias a mutaciones de un mismo gen. A la inversa, entidades clinicas claramente individualizadas pueden ser la consecuencia de mutaciones de genes muy diferentes que pertenezcan o no a una misma via de senalizacion. Esto ha conducido a definir grupos de patologias que se clasifican segun el gen implicado y a poner en evidencia espectros malformativos especificos para cada gen y para los cuales se pueden considerar estrategias terapeuticas comunes.
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- 2008
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14. Osteocondrodisplasias letales
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M. Le Merrer and V. Cormier-Daire
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- 2008
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15. Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip–palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24)
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Laurence Faivre, Nathalie Marle, Frédéric Huet, A. Danino, Patrick Callier, C. Thauvin-Robinet, Francine Mugneret, G. Malka, S. Falcon-Eicher, M. Le Merrer, Alice Masurel-Paulet, J. Borgnon, and A.L. Mosca
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Adult ,Male ,medicine.medical_specialty ,Cleft Lip ,Chromosomal translocation ,Biology ,Short stature ,Translocation, Genetic ,Growth hormone deficiency ,Molecular cytogenetics ,Intellectual Disability ,Internal medicine ,Genetics ,medicine ,Humans ,Growth Disorders ,In Situ Hybridization, Fluorescence ,Genetics (clinical) ,Bone Diseases, Developmental ,Chromosomes, Human, Pair 12 ,Cytogenetics ,Karyotype ,General Medicine ,medicine.disease ,Cleft Palate ,Developmental disorder ,Endocrinology ,Chromosomes, Human, Pair 1 ,Dysplasia ,Growth Hormone ,Karyotyping ,medicine.symptom - Abstract
We report on a 26-year-old patient presenting with extremely short stature (height 72cm, weight 6.5kg, OFC 42.5cm), facial dysmorphism, cleft lip--palate, severe mental retardation and de novo 1q24.2--q25.2 and 12q24.31 interstitial deletion. He was the only child of non-consanguineous parents and his birth length was 43cm. He had severe feeding difficulties and required enteral nutrition until the age of 3 years. Standard cytogenetic analysis showed an apparently balanced de novo translocation t(1;12)(q24;q24). Endocrine studies at 11 years of age for severe growth retardation revealed multiple pituitary hormone deficiency with severe growth hormone deficiency, but the child was untreated because of associated mental retardation. At 26 years of age, he could not walk or speak and had no signs of puberty. Investigations revealed spondylo-epi-metaphyseal dysplasia with severe osteoporosis, enlarged aorta when compared to the patient's size and apparently normal pituitary development. High resolution karyotype showed a 1q24-q25 deletion, and comparative genomic hybridization studies confirmed the 1q interstitial deletion. FISH studies of both breakpoints using PACs and BACs enabled us to further characterize the 1q interstitial deletion (1q24.2-1q25.2) and also revealed a 12q24.31 interstitial microdeletion. This case is compared with previously reported patients with similar deletions, but the untreated pituitary deficiency could also be responsible in part for the severity of the growth deficiency. This observation is of interest for two reasons. First, these deletions could be a clue in the search for a gene responsible for growth hormone deficiency/midline defects. Second, it shows the importance of molecular cytogenetics in the study of de novo apparently balanced translocation with abnormal phenotype.
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- 2007
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16. Pathologies ostéo-articulaires de l’enfant dans les aberrations chromosomiques et les maladies osseuses constitutionnelles avec retard mental
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Michel Zerah, Vicken Topouchian, Georges Finidori, M. Le Merrer, V. Cormier Daire, Geneviève Baujat, and Christophe Glorion
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Rehabilitation - Abstract
De nombreux syndromes et maladies constitutionnelles associent un retard intellectuel, des malformations squelettiques et/ou une dysplasie osseuse. Les complications osteo-articulaires chez ces patients, le plus souvent deja gravement handicapes par leur deficit intellectuel, majorent leur handicap. Le retentissement fonctionnel et le defaut d’autonomie lies aux complications osteo-articulaires concernent non seulement le patient et sa famille, mais d’une facon generale, toutes les personnes qui assurent la prise en charge quotidienne. Chaque affection comporte des complications osteoarticulaires specifiques. La connaissance de ces pathologies permet un depistage et des soins orthopediques adaptes, si possible precoces et preventifs, generalement dans le cadre d’une surveillance et de soins pluridisciplinaires. Le retard intellectuel et l’autonomie limitee sont des facteurs importants dans les indications therapeutiques, mais ne representent pas une contre-indication.
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- 2007
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17. Maladies osseuses constitutionnelles: compressions médullaires et/ou radiculaires chez l’enfant
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Michel Zerah, Georges Finidori, M. Le Merrer, Vicken Topouchian, Geneviève Baujat, Christophe Glorion, and V. Cormier Daire
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Rehabilitation - Abstract
Les maladies osseuses constitutionnelles sont heureusement rares. Cependant, ces affections sont multiples et finalement non exceptionnelles. Beaucoup comportent un risque neurologique, essentiellement par compressions medullaires et/ou radiculaires qui sont souvent meconnues et revelees tardivement devant des complications neurologiques parfois irreversibles et menacant le pronostic vital. La connaissance de cette pathologie doit permettre le depistage de ces complications potentielles et une prise en charge si possible preventive.
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- 2007
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18. Ostéochondrodysplasies létales
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M. Le Merrer and V. Cormier-Daire
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- 2007
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19. Maladies osseuses avec transparence anormale
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M Le Merrer and Valérie Cormier-Daire
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Biology - Published
- 2007
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20. Chondrodysplasies responsables d'insuffisance staturale
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M. Le Merrer and V. Cormier-Daire
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Biology - Published
- 2007
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21. Holes and cracks in rigid foam films
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Anne-Laure Biance, Pauline Petit, M. Le Merrer, Institut Lumière Matière [Villeurbanne] (ILM), Université Claude Bernard Lyon 1 (UCBL), and Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)
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Materials science ,Mechanical Engineering ,Classical Physics (physics.class-ph) ,FOS: Physical sciences ,Physics - Classical Physics ,Condensed Matter - Soft Condensed Matter ,Condensed Matter Physics ,01 natural sciences ,010305 fluids & plasmas ,Rigidity (electromagnetism) ,Mechanics of Materials ,Surface elasticity ,0103 physical sciences ,Soft Condensed Matter (cond-mat.soft) ,Foam film ,[PHYS.MECA.MEFL]Physics [physics]/Mechanics [physics]/Fluid mechanics [physics.class-ph] ,Autocatalytic reaction ,Thin film ,Composite material ,010306 general physics ,[PHYS.COND.CM-SCM]Physics [physics]/Condensed Matter [cond-mat]/Soft Condensed Matter [cond-mat.soft] - Abstract
The classical problem of foam film rupture dynamics has been investigated when the film interfaces exhibit very high rigidity due to the presence of specific surfactants. Two new features are reported. First, a strong deviation from the well-known Taylor–Culick law is observed. Second, crack-like patterns can be visualized in the film; these patterns are shown to appear at a well-defined film shrinkage. The key role of surface-active material on these features is quantitatively investigated, pointing to the importance of surface elasticity to describe these fast dynamical processes and thus providing an alternative tool to characterize surface elasticity in conditions extremely far from equilibrium. The origin of the cracks and their consequences on film rupturing dynamics are also discussed.
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- 2015
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22. Étiologie des craniosténoses
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D. Renier, Eric Arnaud, Daniel Marchac, and M. Le Merrer
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Pediatrics ,medicine.medical_specialty ,Text mining ,business.industry ,Etiology ,Medicine ,Dysostosis ,Surgery ,Neurology (clinical) ,business ,medicine.disease ,Craniosynostosis - Published
- 2006
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23. Maladies osseuses constitutionnelles
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K Lambot and M Le Merrer
- Abstract
RADIOLOGIE ET IMAGERIE MEDICALE : Musculosquelettique - Neurologique - Maxillofaciale - 31-132-A-10
- Published
- 2006
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24. Radiologie et maladies osseuses constitutionnelles : nomenclatures, classification et approche diagnostique
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G. Kalifa, M. Le Merrer, S. Ferey, and Christine Hall
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business.industry ,Medicine ,business - Published
- 2006
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25. New insights in congenital bowing of the femora
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M. Le Merrer, Valérie Cormier-Daire, David Geneviève, and Arnold Munnich
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medicine.medical_specialty ,Pathology ,business.industry ,Kyphomelic dysplasia ,SOX9 ,medicine.disease ,Osteochondrodysplasia ,STUVE-WIEDEMANN SYNDROME ,Campomelic dysplasia ,Endocrinology ,Dysplasia ,Bent bone dysplasia ,Internal medicine ,Genetics ,medicine ,SOX9 Transcription Factor ,business ,Genetics (clinical) - Abstract
The aim of this study is to review the clinical, radiological and molecular findings of the bent bone dysplasia group including Stuve-Wiedemann syndrome due to LIFR mutations, Compomelic dysplasia due to SOX9 mutations and Kyphomelic dysplasia with no known molecular bases.
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- 2004
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26. Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation
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Florence Molinari, M. Le Merrer, Odile Raoul, Nigel P. Carter, Laurence Colleaux, Richard Redon, Valérie Cormier-Daire, Delphine Bacq, Arnold Munnich, Jeanne Amiel, Marlène Rio, Marguerite Prieur, Damien Sanlaville, Michel Vekemans, Guntram Borck, M-C de Blois, and Stanislas Lyonnet
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Genetics ,0303 health sciences ,medicine.medical_specialty ,education.field_of_study ,030305 genetics & heredity ,Population ,Cytogenetics ,Chromosomal rearrangement ,Biology ,Subtelomere ,medicine.disease ,Genome ,Uniparental disomy ,03 medical and health sciences ,medicine ,Microsatellite ,education ,Genotyping ,Genetics (clinical) ,030304 developmental biology - Abstract
Mental retardation (MR) is the most common developmental disability, affecting approximately 2% of the population. The causes of MR are diverse and poorly understood, but chromosomal rearrangements account for 4-28% of cases, and duplications/deletions smaller than 5 Mb are known to cause syndromic MR. We have previously developed a strategy based on automated fluorescent microsatellite genotyping to test for telomere integrity. This strategy detected about 10% of cryptic subtelomeric rearrangements in patients with idiopathic syndromic MR. Because telomere screening is a first step toward the goal of analyzing the entire genome for chromosomal rearrangements in MR, we have extended our strategy to 400 markers evenly distributed along the chromosomes to detect interstitial anomalies. Among 97 individuals tested, three anomalies were found: two deletions (one in three siblings) and one parental disomy. These results emphasize the value of a genome-wide microsatellite scan for the detection of interstitial aberrations and demonstrate that automated genotyping is a sensitive method that not only detects small interstitial rearrangements and their parental origin but also provides a unique opportunity to detect uniparental disomies. This study will hopefully contribute to the delineation of new contiguous gene syndromes and the identification of new imprinted regions.
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- 2004
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27. Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature
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M. Le Merrer, Arnold Munnich, Jeanne Amiel, A. Urtizberea, Stanislas Lyonnet, Marion Gérard, Damien Sanlaville, David Geneviève, Valérie Cormier-Daire, and Géraldine Viot
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Pediatrics ,medicine.medical_specialty ,Optic nerve coloboma ,business.industry ,Vitiligo ,Hypoglycemia ,medicine.disease ,CHARGE syndrome ,Pseudarthrosis ,Cerebellar vermis atrophy ,Intellectual disability ,Genetics ,medicine ,business ,Kabuki syndrome ,Genetics (clinical) - Abstract
Kabuki syndrome (KS) is a rare multiple congenital anomaly/mental retardation syndrome with an estimated frequency of 1/32,000 in Japan. Five major criteria delineate KS namely postnatal short stature, skeletal anomalies, moderate mental retardation, dermatoglyphic anomalies, and a characteristic facial dysmorphism. Here we report on a series of 20 sporadic KS patients and we focus on some rare and atypical features that we have observed: chronic and/or severe diarrhea (4/20) including celiac disease, diaphragmatic defects (3/20), pseudarthrosis of the clavicles (2/20), vitiligo (2/20), and persistent hypoglycemia (2/20). Other occasional findings were severe autoimmune thrombopenia, cerebellar vermis atrophy, and myopathic features. Interestingly, one of our KS patients presented with a clinical overlap with CHARGE syndrome (right eye microphtalmia with optic nerve coloboma, VSD, bilateral cryptorchidism, and severe deafness). Because these features are more frequent in our series than previously described, we propose to carefully investigate these manifestations during KS patient survey in an attempt to determine their real frequency and in order to improve clinical management.
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- 2004
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28. Maladie des exostoses multiples après 40 ans d’évolution : à propos d’un cas
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M. El Guedj, Laurence Legeai-Mallet, A.M Zagdanski, Dominique Farge, M Le Merrer, G Délépine, and J Rambeloarisoa
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Gynecology ,medicine.medical_specialty ,Multiple cartilaginous exostosis ,business.industry ,Hereditary multiple exostoses ,Gastroenterology ,Internal Medicine ,medicine ,business ,medicine.disease ,Osteochondrodysplasia - Abstract
Resume Introduction. – La maladie des exostoses multiples est une affection osteocartilagineuse hereditaire de type autosomique dominant, genetiquement heterogene, dont la prevalence est estimee a 1/50 000 dans les pays occidentaux. Sa complication classique, peu frequente (environ 2 %) mais grave, est la degenerescence maligne. Au moins 3 locus differents, correspondant aux genes codant EXT 1, EXT 2 et EXT 3, sont impliques dans cette maladie. Exegese. – Le patient, âge de 45 ans, est suivi depuis 15 ans a la suite de la resection d’un chondrosarcome tres bien differencie de grade I, developpe a partir d’une exostose iliaque droite posterieure. Les lesions radiologiques sont restees relativement stables et la mutation genetique qui en est responsable a ete identifiee dans la serie EXT 1, l’analyse aux autres locus etant en cours. Conclusion. – Le cas de notre patient illustre les donnees cliniques, radiologiques et genetiques recentes concernant la maladie des exostoses multiples avec une longue survie apres resection d’une exostose degeneree. L’aboutissement de l’analyse genetique permet de progresser dans la comprehension de la physiopathologie de la maladie.
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- 2002
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29. Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation
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Catherine Ozilou, Arnold Munnich, Jeanne Amiel, Catherine Turleau, Valérie Cormier-Daire, S. Romana, M-C de Blois, Michel Vekemans, P. Gosset, Laurence Colleaux, Stanislas Lyonnet, M. Le Merrer, Odile Raoul, Solange Heuertz, Marguerite Prieur, Marlène Rio, Florence Molinari, Service de Génétique Médicale [CHU Necker], CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Handicaps génétiques de l'enfant (Inserm U393), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)
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Male ,Proband ,MESH: Genotype ,Chromosome Segregation ,Gene Duplication ,MESH: Child ,Gene duplication ,MESH: Syndrome ,MESH: In Situ Hybridization, Fluorescence ,Child ,In Situ Hybridization, Fluorescence ,Genetics (clinical) ,Gene Rearrangement ,Genetics ,0303 health sciences ,MESH: Genetic Testing ,medicine.diagnostic_test ,MESH: Gene Duplication ,030305 genetics & heredity ,Chromosome Mapping ,Syndrome ,Telomere ,MESH: Fluorescent Dyes ,Subtelomere ,Uniparental disomy ,Pedigree ,Female ,Original Article ,Chromosome Deletion ,medicine.medical_specialty ,Genotype ,MESH: Pedigree ,MESH: Gene Rearrangement ,MESH: Chromosome Deletion ,MESH: Chromosome Segregation ,Biology ,Sensitivity and Specificity ,MESH: Intellectual Disability ,03 medical and health sciences ,Intellectual Disability ,MESH: Uniparental Disomy ,MESH: Polymorphism, Genetic ,medicine ,Humans ,Genetic Testing ,Genotyping ,Fluorescent Dyes ,030304 developmental biology ,Genetic testing ,Polymorphism, Genetic ,MESH: Humans ,Cytogenetics ,Gene rearrangement ,Uniparental Disomy ,medicine.disease ,MESH: Male ,MESH: Sensitivity and Specificity ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,MESH: Microsatellite Repeats ,MESH: Telomere ,MESH: Chromosome Mapping ,MESH: Female ,Microsatellite Repeats - Abstract
International audience; Recent studies have shown that cryptic unbalanced subtelomeric rearrangements contribute to a significant proportion of idiopathic syndromic mental retardation cases. Using a fluorescent genotyping based strategy, we found a 10% rate of cryptic subtelomeric rearrangements in a large series of 150 probands with severe idiopathic syndromic mental retardation and normal RHG-GTG banded karyotype. Fourteen children were found to carry deletions or duplications of one or more chromosome telomeres and two children had uniparental disomy. This study clearly shows that fluorescent genotyping is a sensitive and cost effective method that not only detects cryptic subtelomeric rearrangements but also provides a unique opportunity to detect uniparental disomies. We suggest giving consideration to systematic examination of subtelomeric regions in the diagnostic work up of patients with unexplained syndromic mental retardation.
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- 2002
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30. Dysmorphism, variable overgrowth, normal bone age, and severe developmental delay: a 'Sotos-like' syndrome?
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Robin M. Winter, Stanislas Lyonnet, Arnold Munnich, Jeanne Amiel, Louise C. Wilson, Valérie Cormier-Daire, M. Le Merrer, and Laurence Faivre
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Pediatrics ,medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,Sotos syndrome ,Birth weight ,Macrocephaly ,Bone age ,medicine.disease ,Uniparental disomy ,Hypotonia ,Endocrinology ,Internal medicine ,Overgrowth syndrome ,Genetics ,medicine ,Amniocentesis ,medicine.symptom ,business ,Genetics (clinical) - Abstract
Sotos syndrome (MIM 117550) is an overgrowth syndrome first described by Sotos et al 1 in 1964 with over 200 cases reported to date. The syndrome is characterised by pre- and postnatal overgrowth, macrocephaly, advanced bone age, and distinctive facial features.2 In a review of 79 patients diagnosed as Sotos syndrome, Cole and Hughes3 showed that the overall gestalt was as efficient as clinical and radiological criteria for the diagnosis. The vast majority of cases are sporadic. Concordant and discordant monozygotic twins have been reported.4,5 In rare instances, familial cases with autosomal dominant or autosomal recessive inheritance have been suspected and chromosomal rearrangements have also been reported.4,6 However, the aetiology of Sotos syndrome remains unknown. A hypothalamic origin was first suspected but extensive endocrinological testing failed to show significant anomalies. More recently, chromosomal uniparental disomy has been ruled out.7 Here, we report on five unrelated cases with a Sotos facial gestalt, severe developmental delay, moderate to absent overgrowth, and normal bone age. We propose a separate Sotos-like syndrome. ### Case 1 Case 1, a male, was the third child of healthy, non-consanguineous parents, aged 31 and 33 years at the time of birth. The mother's height was 1.57 m (25th centile) and the father's 1.72 m (between the 25th and 50th centile). Amniocentesis was performed for at risk maternal serum screening and fetal chromosomes were normal 46,XY. Bilateral vesicoureteral reflux was diagnosed prenatally and surgically repaired at 9 months of age. He was born at term with normal birth parameters (birth weight 3360 g, 25th centile; length 51 cm, 50th centile; OFC 35 cm, 50th centile). He had hypotonia and psychomotor delay (sat at 12 months, walked at 24 months, no words at 24 months). He was first investigated at 9 months; hypsarrythmia was diagnosed and …
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- 2002
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31. Arthrogryposis multiplex congenita and Cerebellopontine Ischemic Lesions in Sibs: Recurrence of Prenatal Disruptive Brain Lesions with Different Patterns of Expression?
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M. Le Merrer, Dominique Mahieu-Caputo, Y. Martinovic, Laurent Salomon, Pascale Sonigo, Marie-Cécile Aubry, Marc Dommergues, Yves Dumez, and Férechté Encha-Razavi
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Adult ,Embryology ,Pathology ,medicine.medical_specialty ,Gestational Age ,Prenatal diagnosis ,Ultrasonography, Prenatal ,Brain Ischemia ,Pregnancy ,Cerebellum ,Pons ,Prenatal Diagnosis ,medicine ,Humans ,Radiology, Nuclear Medicine and imaging ,Family history ,Arthrogryposis ,Fetus ,Arthrogryposis multiplex congenita ,business.industry ,Brain ,Obstetrics and Gynecology ,General Medicine ,medicine.disease ,Magnetic Resonance Imaging ,Hypoplasia ,Pediatrics, Perinatology and Child Health ,Female ,Multiple pterygium syndrome ,medicine.symptom ,Abnormality ,Tomography, X-Ray Computed ,business - Abstract
Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of disorders in which prolonged decrease or absence of fetal movements results in a series of deformational anomalies. The rate of recurrence ranges from 25% in some recessive forms of myogenic arthrogryposis or of primary anterior horn cell loss, to less than 1% in anoxic-ischaemic damage. Cerebral clastic processes are considered as sporadic. We report on a non-consanguineous family in which the first child was affected by AMC and the following pregnancy was terminated because cerebellum hypoplasia was suspected at ultrasound and confirmed by fetal magnetic resonance imaging. Post-mortem findings demonstrated pontocerebellar ischaemic-haemorrhagic injuries. The occurrence of these neurologic abnormalities in the same family suggests a common mechanism, which might correspond to a same genetic defect with different patterns of expression. This is the first prenatal report suggesting that an ‘ischaemic’ process, usually recognised as sporadic could in fact be due to an inherited abnormality. Careful prenatal follow-up of third-trimester fetal brain development may be required in pregnant women with a family history of AMC.
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- 2002
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32. Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients
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K. Lambot-Juhan, Ana Colmenares, M. Le Merrer, Isabelle Flechtner, Michel Polak, R Teissier, Graziella Pinto, Jacques Beltrand, Valérie Cormier-Daire, Albane Simon, Z Ajaltouni, Caroline Thalassinos, Geneviève Baujat, C Pauwels, and Dinane Samara-Boustani
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Male ,Pediatrics ,medicine.medical_specialty ,Adolescent ,Skeletal survey ,Endocrinology, Diabetes and Metabolism ,Limb Deformities, Congenital ,Context (language use) ,Hypochondroplasia ,Dwarfism ,Osteochondrodysplasias ,Bone and Bones ,Cohort Studies ,Endocrinology ,medicine ,Prevalence ,Humans ,Prospective Studies ,Prospective cohort study ,Child ,Hospitals, Teaching ,Referral and Consultation ,Growth Disorders ,Family Health ,Bone Diseases, Developmental ,Fetal Growth Retardation ,business.industry ,Genetic Variation ,Infant ,General Medicine ,medicine.disease ,Hospitals, Pediatric ,Idiopathic short stature ,Dysplasia ,Child, Preschool ,Infant, Small for Gestational Age ,Lordosis ,Small for gestational age ,Female ,France ,business ,Cohort study - Abstract
ObjectiveTo assess the prevalence of skeletal dysplasias (SDs) in patients with idiopathic short stature (ISS) or small for gestational age (SGA) status.SettingRare Endocrine/Growth Diseases Center in Paris, France.DesignA prospective study on consecutive patients with ISS and SGA enrolled from 2004 to 2009.MethodWe used a standardized workup to classify patients into well-established diagnostic categories. Of 713 patients with ISS (n=417) or SGA status (n=296), 50.9% underwent a skeletal survey. We chose patients labeled normal or with a prepubertal slowdown of growth as a comparison group.ResultsDiagnoses were ISS (16.9%), SGA (13.5%), normal growth (24.5%), transient growth rate slowing (17.3%), endocrine dysfunction (12%), genetic syndrome (8.9%), chronic disease (5.1%), and known SD (1.8%). SD was found in 20.9% of SGA and 21.8% ISS patients and in only 13.2% in our comparison group. SD prevalence was significantly higher in the ISS group than in the comparison group, especially (50%) for patients having at least one parent whose height was ConclusionSD may explain more than 20% of cases of growth retardation ascribed to ISS or SGA, and this proportion is higher when parental height is
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- 2014
33. The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda
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D. Chitayat, Jozef Gecz, William G. Cole, Stephen P. Robertson, Solange Heuertz, David L. Rimoin, Arnold Munnich, Ravi Savarirayan, B.G. Kousseff, I. A. Glass, George E. Tiller, John C. Mulley, Bernhard Zabel, M. Le Merrer, Agi K. Gedeon, Hirofumi Ohashi, and L. Tranebjaerg
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Spondyloepiphyseal dysplasia ,Genetic Markers ,Male ,X Chromosome ,Genetic Linkage ,Nonsense mutation ,DNA Mutational Analysis ,Molecular Sequence Data ,Biology ,medicine.disease_cause ,Osteochondrodysplasias ,Frameshift mutation ,03 medical and health sciences ,Exon ,Structure-Activity Relationship ,0302 clinical medicine ,medicine ,Ethnicity ,Genetics ,Missense mutation ,Humans ,Genetics(clinical) ,Genetic Testing ,RNA, Messenger ,Genetics (clinical) ,X chromosome ,030304 developmental biology ,0303 health sciences ,Mutation ,Bone Development ,Polymorphism, Genetic ,Base Sequence ,Reverse Transcriptase Polymerase Chain Reaction ,Racial Groups ,Membrane Transport Proteins ,Exons ,Articles ,medicine.disease ,Osteochondrodysplasia ,Body Height ,3. Good health ,Phenotype ,Haplotypes ,Carrier Proteins ,030217 neurology & neurosurgery ,Transcription Factors - Abstract
The X-linked form of spondyloepiphyseal dysplasia tarda (SEDL), a radiologically distinct skeletal dysplasia affecting the vertebrae and epiphyses, is caused by mutations in the SEDL gene. To characterize the molecular basis for SEDL, we have identified the spectrum of SEDL mutations in 30 of 36 unrelated cases of X-linked SEDL ascertained from different ethnic populations. Twenty-one different disease-associated mutations now have been identified throughout the SEDL gene. These include nonsense mutations in exons 4 and 5, missense mutations in exons 4 and 6, small (2–7 bp) and large (>1 kb) deletions, insertions, and putative splicing errors, with one splicing error due to a complex deletion/insertion mutation. Eight different frameshift mutations lead to a premature termination of translation and account for >43% (13/30) of SEDL cases, with half of these (7/13) being due to dinucleotide deletions. Altogether, deletions account for 57% (17/30) of all known SEDL mutations. Four recurrent mutations (IVS3+5G→A, 157–158delAT, 191–192delTG, and 271–275delCAAGA) account for 43% (13/30) of confirmed SEDL cases. The results of haplotype analyses and the diverse ethnic origins of patients support recurrent mutations. Two patients with large deletions of SEDL exons were found, one with childhood onset of painful complications, the other relatively free of additional symptoms. However, we could not establish a clear genotype/phenotype correlation and therefore conclude that the complete unaltered SEDL-gene product is essential for normal bone growth. Molecular diagnosis can now be offered for presymptomatic testing of this disorder. Appropriate lifestyle decisions and, eventually, perhaps, specific SEDL therapies may ameliorate the prognosis of premature osteoarthritis and the need for hip arthroplasty.
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- 2001
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34. Linkage exclusion and mutational analysis of thenoggingene in patients with fibrodysplasia ossificans progressiva (FOP)
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M. Le Merrer, Eileen M. Shore, Michel Fardeau, Y Y Shugart, James T. Triffitt, David L. Glaser, J. M. Connor, Roger Smith, J. A. Urtizberea, Frederick S. Kaplan, George J. Feldman, and Meiqi Xu
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Genetics ,animal structures ,Genetic disorder ,Locus (genetics) ,Single-strand conformation polymorphism ,Biology ,medicine.disease ,Germline mutation ,Bone morphogenetic protein 4 ,Genetic linkage ,Fibrodysplasia ossificans progressiva ,embryonic structures ,medicine ,Noggin ,Genetics (clinical) - Abstract
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare and disabling genetic disorder characterized by congenital malformation of the great toes and by progressive heterotopic endochondral ossification in predictable anatomical patterns. Although elevated levels of bone morphogenetic protein 4 (BMP4) occur in lymphoblastoid cells and in lesional cells of patients with FOP, mutations have not been identified in the BMP4 gene, suggesting that the mutation in FOP may reside in a BMP4-interacting factor or in another component of the BMP4 pathway. A powerful antagonist of BMP4 is the secreted polypeptide noggin. A recent case report described a heterozygous 42-bp deletion in the protein-coding region of the noggin gene in a patient with FOP. In order to determine if noggin mutations are a widespread finding in FOP, we examined 31 families with 1 or more FOP patients. Linkage analysis with an array of highly polymorphic microsatellite markers closely linked to the noggin gene was performed in four classically-affected multigenerational FOP families and excluded linkage of the noggin locus to FOP (the multipoint lod score was -2 or less throughout the entire range of markers). We sequenced the noggin gene in affected members of all four families, as well as in 18 patients with sporadic FOP, and failed to detect any mutations. Single-strand conformation polymorphism (SSCP) analysis of 4 of these patients plus an additional 9 patients also failed to reveal any mutations. Among the samples analyzed by SSCP and DNA sequencing was an independently obtained DNA sample from the identical FOP patient previously described with the 42-bp noggin deletion; no mutation was detected. Examination of the DNA sequences of 20 cloned noggin PCR products, undertaken to evaluate the possibility of a somatic mutation in the noggin gene which could be carried by a small subset of white blood cells, also failed to detect the presence of the reported 42-bp deletion. We conclude that mutations in the coding region of noggin are not associated with FOP.
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- 2000
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35. Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation
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Stanislas Lyonnet, Arnold Munnich, M. Le Merrer, Valérie Cormier-Daire, M. L. Chauvet, and Marie-Louise Briard
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Microcephaly ,Nasal bridge ,business.industry ,Brachydactyly ,Short Report ,Anatomy ,medicine.disease ,Hypoplasia ,Pulmonary hypoplasia ,Agenesis ,Genetics ,medicine ,Genitopatellar syndrome ,business ,Agenesis of the corpus callosum ,Genetics (clinical) - Abstract
We report on the association of absent patellae, genital and renal anomalies, dysmorphic features, and mental retardation in seven children (six boys and one girl) belonging to five unrelated families. Flexion deformities of the knees and hips with club feet and absent patellae were consistently observed and scrotal hypoplasia and cryptorchidism were present in all boys (6/6). Dysmorphic features included a coarse face, a large nose with a high nasal bridge, and microcephaly. Other features included renal anomalies (multicystic kidneys or hydronephrosis, 7/7), agenesis of the corpus callosum (4/7), swallowing difficulties, micrognathia (4/7), and pulmonary hypoplasia (3/7). Bilateral hypoplasia of the ischia and brachydactyly were also consistently observed (5/5). In two out of seven cases, prenatal ultrasound detection of microcephaly and renal anomalies led to termination of the pregnancy at 27 weeks. Three children died during the first years of life and the remaining two who survived exhibit severe developmental delay. High resolution cytogenetic studies performed on lymphocytes or fibroblasts or both were normal in all cases. Recurrence in two families suggests an autosomal recessive mode of inheritance. We propose that this unusual association, similar to that observed in a 4 year old boy by Goldblatt et al, represents a new syndrome distinct from previously reported hypoplastic patella syndromes. Keywords: patella; genital anomalies; renal anomalies; mental retardation
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- 2000
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36. A Novel Parathyroid Hormone (PTH)/PTH-Related Peptide Receptor Mutation in Jansen’s Metaphyseal Chondrodysplasia1
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Ernestina Schipani, Caroline Silve, Kah Yin Loke, Harald Jüppner, J.L. Hunzelman, M. Le Merrer, Craig B. Langman, and M J Dillon
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medicine.medical_specialty ,Mutation ,Parathyroid hormone receptor ,Endocrinology, Diabetes and Metabolism ,Biochemistry (medical) ,Clinical Biochemistry ,Parathyroid hormone ,Biology ,medicine.disease_cause ,medicine.disease ,Biochemistry ,Osteochondrodysplasia ,Jansen's metaphyseal chondrodysplasia ,Endocrinology ,Ion homeostasis ,Internal medicine ,medicine ,Missense mutation ,Receptor ,hormones, hormone substitutes, and hormone antagonists - Abstract
Two heterozygous PTH/PTH-related peptide (PTHrP) receptor missense mutations were previously identified in patients with Jansen’s metaphyseal chondrodysplasia (JMC), a rare form of short limb dwarfism associated with hypercalcemia and normal or undetectable levels of PTH and PTHrP. Both mutations, H223R and T410P, resulted in constitutive activation of the cAMP signaling pathway and provided a plausible explanation for the abnormalities in skeletal development and mineral ion homeostasis. In the present study we analyzed genomic DNA from four additional sporadic cases with JMC to search for novel activating mutations in the PTH/PTHrP receptor, to determine the frequency of the two previously identified missense mutations, H223R and T410P, and to determine whether different mutations present with different severity of the disease. The H223R mutation was identified in three novel JMC patients and is, therefore, to date the most frequent cause of JMC. In the fourth patient, a novel heterozygous missense muta...
- Published
- 1999
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37. Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia
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S. Bahabri, Andrea Superti-Furga, Jamil Al-Alami, J K Herd, W. Van Hul, Jean Roudier, H Rezai-Delui, M. Le Merrer, Wafaa M. Suwairi, J R Hurvitz, D Holderbaum, Hatem El-Shanti, Richard M. Pauli, Eric Legius, E Van Hul, and Matthew L. Warman
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Male ,Pathology ,medicine.medical_specialty ,Adolescent ,Molecular Sequence Data ,Population ,Biology ,Osteochondrodysplasias ,Bone and Bones ,Immediate early protein ,Immediate-Early Proteins ,CCN Intercellular Signaling Proteins ,Nephroblastoma Overexpressed Protein ,Skeletal disorder ,Proto-Oncogene Proteins ,Genetics ,medicine ,Humans ,CCN protein ,Growth Substances ,education ,Oncogene Proteins ,education.field_of_study ,Cartilage homeostasis ,Connective Tissue Growth Factor ,Intracellular Signaling Peptides and Proteins ,Hand ,medicine.disease ,Radiography ,CTGF ,Cartilage ,Haplotypes ,Dysplasia ,Mutation ,Intercellular Signaling Peptides and Proteins ,Chromosomes, Human, Pair 6 - Abstract
Members of the CCN (for CTGF, cyr61/cef10, nov) gene family encode cysteine-rich secreted proteins with roles in cell growth and differentiation1. Cell-specific and tissue-specific differences in the expression and function of different CCN family members suggest they have non-redundant roles. Using a positional-candidate approach, we found that mutations in the CCN family member WISP3 are associated with the autosomal recessive skeletal disorder progressive pseudorheumatoid dysplasia (PPD; MIM 208230). PPD is an autosomal recessive disorder that may be initially misdiagnosed as juvenile rheumatoid arthritis2,3,4,5. Its population incidence has been estimated at 1 per million in the United Kingdom4, but it is likely to be higher in the Middle East and Gulf States6. Affected individuals are asymptomatic in early childhood2,3. Signs and symptoms of disease typically develop between three and eight years of age. Clinically and radiographically, patients experience continued cartilage loss and destructive bone changes as they age2,3,4,5,6,7, in several instances necessitating joint replacement surgery by the third decade of life. Extraskeletal manifestations have not been reported in PPD. Cartilage appears to be the primary affected tissue, and in one patient, a biopsy of the iliac crest revealed abnormal nests of chondrocytes and loss of normal cell columnar organization in growth zones5. We have identified nine different WISP3 mutations in unrelated, affected individuals, indicating that the gene is essential for normal post-natal skeletal growth and cartilage homeostasis.
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- 1999
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38. Ostéogenèse imparfaite, annonce du diagnostic (classification clinique et génétique)
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Valérie Cormier-Daire, M. Le Merrer, Geneviève Baujat, and A.-S. Lebre
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Nosology ,medicine.medical_specialty ,Pediatrics ,Osteogenesis imperfecta ,business.industry ,Public health ,Pediatrics, Perinatology and Child Health ,medicine ,medicine.disease ,business ,Osteochondrodysplasia - Published
- 2008
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39. Progressive osseous heteroplasia
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F. Cartault, H. Testart, Frederick S. Kaplan, Liliane Boccon-Gibod, M. Le Merrer, and J. A. Urtizberea
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musculoskeletal diseases ,Pathology ,medicine.medical_specialty ,Candidate gene ,integumentary system ,Ossification ,business.industry ,Genetic disorder ,medicine.disease ,Progressive osseous heteroplasia ,Connective tissue disease ,Genetic linkage ,Fibrodysplasia ossificans progressiva ,medicine ,Orthopedics and Sports Medicine ,Surgery ,Osteodystrophy ,medicine.symptom ,business - Abstract
We report a case of progressive osseous heteroplasia in a female infant who had progressive ossification of the skin and deep connective tissues. Isolated dermal ossification is present in her father and younger sister suggesting an autosomal dominant mode of inheritance with variable expressivity or possible somatic mosaicism. This report of a family with progressive osseous heteroplasia contributes to the understanding of this uncommon genetic disorder, which must be distinguished from fibrodysplasia ossificans progressiva and Albright’s hereditary osteodystrophy. The paucity of familial cases of progressive osseous heteroplasia currently limits the use of a genome-wide linkage analysis, but linkage exclusion analysis with promising candidate genes is a possibility.
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- 1998
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40. Trigonocéphalie: formes isolées, associées et syndromiques. Étude génétique d'une série de 278 patients
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E. Lajeunie, M. Le Merrer, Dominique Renier, Daniel Marchac, and Eric Arnaud
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Gynecology ,medicine.medical_specialty ,business.industry ,Pediatrics, Perinatology and Child Health ,medicine ,business ,Infant newborn - Abstract
Resume A partir d'une serie de 1 833 craniostenoses, les auteurs analysent 278 observations de trigonocephalies. La prevalence de la trigonocephalie est evaluee a 1/15 000 nouveau-nes. Patients et methodes Tous les patients porteurs d'une synostose de la suture metopique ont ete selectionnes, en excluant les cas ou d'autres sutures etaient egalement atteintes. L'âge au moment du diagnostic allait de 15 jours a 15 ans. Le diagnostic de trigonocephalie etait fait sur l'examen clinique et les radiographies du crâne. La recherche de malformations associees etait fondee sur la clinique, la tomodensitometrie crânienne (et/ou l'IRM), les radiographies du squelette et l'echographie abdominale. Autant que possible, une etude du caryotype etait realisee lorsqu'une malformation associee etait decouverte. L'etude familiale etait faite par contact direct ou, plus rarement, par telephone. Les observations ont ete divisees en trois groupes : groupe 1, les trigonocephalies isolees ; groupe 2, les cas avec malformations associees mais sans syndromes repertories ; et groupe 3, les syndromes repertories. Resultats Il y avait 213 garcons et 65 filles, donnant un sex-ratio de 3,3. Une enquete familiale etait disponible dans 216 cas. L'âge maternel moyen etait de 29,6 ans et l'âge paternel moyen etait de 32,2 ans a la naissance des enfants, ce qui correspond aux moyennes nationales. On comptait 18 grossesses multiples (7,9 %). Trois des six paires de jumeaux monozygotes etaient concordantes pour la craniostenose. On denombrait 13 cas de trigonocephalies familiales (6 %). Dans un seul cas, la transmission etait verticale ; tous les autres comportaient des germains atteints avec des parents indemnes. Onze des formes familiales correspondaient a des trigonocephalies isolees ; les deux autres etaient des formes syndromiques. Sur 53 caryotypes obtenus, neuf revelaient des anomalies, qui portaient sur les chromosomes 7, 9, 11 ou 13. Le groupe 1 comportait 208 observations. Le groupe 2 regroupait 53 cas : les malformations associees etaient uniques dans 32 cas et affectaient surtout le cœur (12 cas), les extremites (six cas), l'encephale (cinq cas) et l'appareil genito-urinaire (quatre cas). Elles etaient multiples dans 21 cas, le plus souvent a la fois viscerales et des extremites (15 cas). Certaines de ces associations pourraient correspondre a des syndromes encore non decrits. Dix-sept syndromes, dont neuf syndromes chromosomiques, representaient le groupe 3. Onze de ces syndromes presentaient des malformations multiples. Une exposition in utero a l'acide valproique etait retrouvee dans deux cas du groupe 1, cinq cas du groupe 2 et un cas du groupe 3.
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- 1998
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41. Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia
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R Puddu, JM Rival, Peter Freisinger, S Peyramaure, F. Muller, H. Plauchu, J. L. Serre, P Bussière, J Godard, Andrea Superti-Furga, B. Simon-Bouy, M. Le Merrer, Renaud Touraine, F Kaper, J F Oury, Rolf E. Brenner, Agnès Taillandier, and Etienne Mornet
- Subjects
Genetics ,Mutation ,Base Sequence ,Hypophosphatemia ,Nonsense mutation ,Hypophosphatasia ,Gene mutation ,Biology ,Alkaline Phosphatase ,medicine.disease ,medicine.disease_cause ,Polymerase Chain Reaction ,Europe ,Genetic marker ,Prenatal Diagnosis ,medicine ,Humans ,Alkaline phosphatase ,Missense mutation ,Gene ,Polymorphism, Single-Stranded Conformational ,Genetics (clinical) ,DNA Primers - Abstract
Hypophosphatasia is an inherited disorder characterised by defective bone mineralisation and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterisation of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 13 European families affected by perinatal, infantile or childhood hypophosphatasia. Eighteen distinct mutations were found, only three of which had been reported previously in North American and Japanese populations. Most of the 15 new mutations were missense mutations, but we also found two mutations affecting donor splice sites and a nonsense mutation. A missense mutation in the last codon of the putative signal peptide probably affects the final maturation of the protein. Despite extensive sequencing of the gene and its promotor region, only one mutation was identified in two cases, one of which was compatible with a possible dominant effect of certain mutations and the putative role of polymorphisms of the TNSALP gene. In 12 of the 13 tested families, genetic diagnosis was possible by characterisation of the mutations or by use of polymorphisms as genetic markers. Hypophosphatasia diagnosis was assigned in two families where clinical, laboratory and radiographic data were unclear and prenatal diagnosis was performed in one case. The results also show that severe hypophosphatasia is due to a very large spectrum of mutations in European populations with no prevalent mutation and that genetic diagnosis of the disease must be performed by extensive analysis of the gene.
- Published
- 1998
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42. Clinical homogeneity of the St�ve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2
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M. Le Merrer, Stanislas Lyonnet, P. Maroteaux, Arnold Munnich, Andrea Superti-Furga, A. Giedion, P de Lonlay, Pierre Rustin, Anne-Lise Delezoide, and Valérie Cormier-Daire
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Pediatrics ,medicine.medical_specialty ,Muscle Hypotonia ,Muscular hypotonia ,Respiratory distress ,business.industry ,Schwartz–Jampel syndrome ,Dysostosis ,Consanguinity ,medicine.disease ,Osteochondrodysplasia ,Camptodactyly ,Endocrinology ,Internal medicine ,medicine ,medicine.symptom ,business ,Genetics (clinical) - Abstract
The Stuve-Wiedemann syndrome (SWS) is a rare disorder characterized by respiratory distress, hyperthermic episodes, and early lethality and radiologically by bowing of the long bones with internal cortical thickening and large metaphyses. We report findings in 8 new patients suggesting that this syndrome is clinically homogeneous. All patients had feeding and swallowing difficulties, respiratory insufficiency, abnormal appearance, muscle hypotonia, and postnatal short stature. Recurrent episodes of unexplained fever occurred in all and were the cause of death in 6 of 8 cases. Parental consanguinity and sib recurrence suggest autosomal recessive inheritance. The clinical, radiological, and histological similarities between our patients with SWS and those with the recently delineated "neonatal" Schwartz-Jampel syndrome (SJS type 2) lead us to suggest that SWS and SJS type 2 may be a single entity.
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- 1998
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43. Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome
- Author
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H Lakhdar, Claude Houdayer, Dominique Vidaud, Michel Vidaud, Michel Bahuau, S Giraud, Stanislas Lyonnet, B Assouline, D Récan, M. Le Merrer, and C Blanchet-Bardon
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Genetics ,congenital, hereditary, and neonatal diseases and abnormalities ,biology ,Nonsense mutation ,Genetic disorder ,Locus (genetics) ,medicine.disease ,Neurofibromin 1 ,Exon ,Genetic linkage ,biology.protein ,medicine ,Noonan syndrome ,Neurofibromatosis ,Genetics (clinical) - Abstract
Neurofibromatosis type 1 (NF1), a genetic disorder with neuroectodermal involvement, demonstrates phenotypic overlap in some patients with Noonan syndrome (NS), ultimately resulting in the so-called neurofibromatosis-Noonan syndrome (NF-NS). A strong association of the two phenotypic traits was recently illustrated by a four-generation family, although NF1 and NS were eventually demonstrated to segregate independently on the basis of polymorphic DNA markers [Bahuau et al., 1996: Am J Med Genet 66:347-355]. Identification of the causal NF1 mutation seemed a prerequisite to further dissecting this singular familial association. Using the protein truncation assay, a nonsense mutation (C2446T-->R816X) of the neurofibromin gene was evidenced. This mutation occurred on a CpG dinucleotide within exon 16 and 5' to the GAP domain-specifying region of the gene. R816X creates a recognition site for endonuclease HphI, absent in 2 individuals with NS only. Screening 184 unrelated NF1 patients, three novel occurrences of the mutation were found in individuals diagnosed with classical NF1. Based on the assumption of genotype-phenotype correlation in these individuals, clinical and molecular analyses of this four-generation family demonstrated that the NF-NS phenotype was additive, being the result of both classical NF1 and NS. This particular observation also suggests the presence of an NS locus on 17q, which might be of interest for further linkage studies.
- Published
- 1998
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44. Récepteurs des facteurs de croissance fibroblastique et anomalies héréditaires de la croissance osseuse
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François Rousseau, Laurence Legeai-Mallet, Catherine Benoist-Lasselin, M. Le Merrer, Jacky Bonaventure, and Arnold Munnich
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Pediatrics, Perinatology and Child Health ,Biology - Published
- 1997
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45. Common Mutations in the Fibroblast Growth Factor Receptor 3 (FGFR 3) Gene Account for Achondroplasia, Hypochondroplasia and Thanatophoric Dwarfism
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Laurence Legeai-Mallet, J. Bonaventure, Pierre Maroteaux, Arnold Munnich, F. Rousseau, and M. Le Merrer
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musculoskeletal diseases ,Genetics ,Thanatophoric dysplasia ,Endocrinology, Diabetes and Metabolism ,Dwarfism ,Hypochondroplasia ,Gene mutation ,Biology ,Fibroblast growth factor receptor 3 ,medicine.disease ,Endocrinology ,Skeletal disorder ,Fibroblast growth factor receptor ,Pediatrics, Perinatology and Child Health ,medicine ,Missense mutation ,Achondroplasia ,Genetics (clinical) - Abstract
The mapping of the achondroplasia locus to the short arm of chromosome 4 and the subsequent identification of a recurrent missense mutation (G380R) in the fibroblast growth factor receptor 3 (FGFR-3) gene has been followed by the detection of common FGFR-3 mutations in two clinically related disorders: thanatophoric dwarfism (types I and II) and hypochondroplasia. The relative clinical homogeneity of achondroplasia was substantiated by demonstration of its genetic homogeneity as more than 98% of all patients hitherto reported exhibit mutations in the transmembrane receptor domain. Although most hypochondroplasia cases were accounted for by a recurrent missense substitution (N540K) in the first tyrosine kinase (TK 1) domain of the receptor, a significant proportion (40%) of our patients did not harbor the N540K mutation and three hypochondroplasia families were not linked to the FGFR-3 locus, thus supporting clinical heterogeneity of this condition. In thanatophoric dwarfism (TD), a recurrent FGFR-3 mutation located in the second tyrosine kinase (TK 2) domain of the receptor was originally detected in 100% of TD II cases, our series seven distinct mutations in three different protein domains were identified in 25 of 26 TD I patients, suggesting that TD, like achondroplasia, is a genetically homogenous skeletal disorder.
- Published
- 1997
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46. Animal models of Osteogenesis Imperfecta and craniofacial development
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A Marchadier, M Goldberg, Agnès Kamoun-Goldrat, and M Le Merrer
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Nosology ,Pathology ,medicine.medical_specialty ,business.industry ,Dentinogenesis imperfecta ,Genetic disorder ,medicine.disease ,Skull ,medicine.anatomical_structure ,Osteogenesis imperfecta ,Brittle bones ,Wormian bones ,Medicine ,Craniofacial ,business - Abstract
Introduction Osteogenesis imperfecta (OI) is a human genetic disorder of increased bone fragility and low bone mass. Severity varies widely, ranging from intrauterine fractures and perinatal lethality to very mild forms without fractures. There is variable association of typical extra skeletal manifestations with the disorder, including blue sclera, dentinogenesis imperfecta, hyperlaxity of ligaments and skin, hearing impairment and the presence of Wormian bones on skull radiography1. The most widely used classification of OI distinguished four clinical types2. The most relevant clinical characteristic of all OI t-ypes is bone fragility, the severity of which increases in the order type I < type IV < type III < type II. It is now w-idely recognized that there may be m-any more types of OI than those class-ified by Sillence et al. Some forms of congenital brittle bones have been considered OI and have been added as types V, VI and VII3–5. There is still no perfect consensus about the definition of OI. Plotkin recently proposed defining OI as syndromes resulting from mutations in either COL1A1 or COL1A2 genes, and to group all other syndromes with congenital brittle bones as ‘syndromes resembling OI (SROI)’, pending the identification of their causal mutations6. In the new Nosology and Classification of the Genetic Skeletal disorders7, OI is declined in several forms depending on the severity of the phenotype, whatever the mode of the transmission or the gene involved. We first review the genetic mutations implicated in the eight different types of OI, then, the craniofacial consequences of OI mutations are summarized. * Corresponding author Email: mgoldberg.goldberg004@gmail.com
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- 2013
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47. Possible genetic heterogeneity in the Saethre-Chotzen syndrome
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M. Le Merrer, N de Parseval, H. W. Ma, D. Renier, Arnold Munnich, and Elizabeth Lajeunie
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Genetic Markers ,Male ,Genetics ,Disease gene ,Genetic Linkage ,Genetic heterogeneity ,Chromosome Mapping ,Locus (genetics) ,Acrocephalosyndactylia ,Biology ,medicine.disease ,Genetic analysis ,Pedigree ,Child, Preschool ,medicine ,Humans ,Female ,Saethre–Chotzen syndrome ,Gene ,Chromosomes, Human, Pair 7 ,Genetics (clinical) ,Genes, Dominant - Abstract
Saethre-Chotzen syndrome is an autosomal dominant acrocephalosyndactyly syndrome whose gene has been assigned to chromosome 7p. Cytogenetic and linkage analyses have enabled the interval encompassing the disease gene to be delimited to a short region of chromosome 7p15.3-p21.2. Based on the genetic analysis of three unreported families, we confirm the location of the disease gene(s) in the interval defined by loci D7S664 and D7S493 (Zmax = 4.78 at [symbol: see text] = 0 at the D7S488 locus) but fail to decide whether one or more disease-causing genes map in this genetic interval.
- Published
- 1996
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48. Genetic mapping of Xp22.12–p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL)
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M. Le Merrer, Pierre Maroteaux, Marie-Claude Hors-Cayla, A. Smahi, Solange Heuertz, and Andrew O.M. Wilkie
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Male ,Recombination, Genetic ,Spondyloepiphyseal dysplasia ,Genetics ,X Chromosome ,Genetic Linkage ,Chromosome Mapping ,Biology ,Osteochondrodysplasias ,medicine.disease ,Osteochondrodysplasia ,Short stature ,Human genetics ,Pedigree ,Gene mapping ,Genetic marker ,medicine ,Humans ,Microsatellite ,Female ,medicine.symptom ,Genetics (clinical) ,X chromosome - Abstract
Spondyloepiphyseal dysplasia tarda (SEDL) is an X-linked recessive disorder characterized in affected males by short stature resulting from a growth defect of the vertebral bodies. We have extended our earlier studies by analyzing 15 families with newly identified microsatellite DNA markers; analysis of recombination events with these markers indicates that the gene responsible for SEDL is located in Xp22 between DXS 16 and DXS 987 on an interval spanning approximately 2 Mb.
- Published
- 1995
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49. Bubbles slipping along a crenelated wall
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D. Germain, M. Le Merrer, Institut Lumière Matière [Villeurbanne] (ILM), Université Claude Bernard Lyon 1 (UCBL), and Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)
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[PHYS]Physics [physics] ,Physics ,Bubble ,General Physics and Astronomy ,Mechanics ,Slip (materials science) ,01 natural sciences ,Capillary number ,010305 fluids & plasmas ,Physics::Fluid Dynamics ,[SPI]Engineering Sciences [physics] ,Wavelength ,Amplitude ,Inclination angle ,0103 physical sciences ,[CHIM]Chemical Sciences ,010306 general physics ,Slipping ,ComputingMilieux_MISCELLANEOUS - Abstract
We describe the ascent dynamics of air bubbles squeezed against a rigid crenelated plate immersed in a liquid bath. Depending on its shape and the inclination angle, the bubbles can remain trapped in the crenelations, or slip against the wall. In particular, the yield force separating the two regimes increases with the height of the crenels. In the second regime, the slipping motion is characterized by a capillary number which barely depends on the crenel geometry (wavelength and amplitude), at large enough angles. We finally discuss the regime of intermediate angles, and interpret the measured oscillations in bubble velocities through the existence of a (spatially) periodic force. These results provide information at the bubble scale for processes at play in the slip of foams and emulsions against rough walls.
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- 2016
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50. Acral dysostosis dyserythropoiesis syndrome
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Pierre Maroteaux, Philippe Parent, M. Le Merrer, Valérie Cormier-Daire, and R. Girot
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Male ,Ineffective erythropoiesis ,Congenital dyserythropoietic anaemia ,medicine.medical_specialty ,Foot Deformities, Congenital ,Macrocytosis ,medicine.disease_cause ,Pelvis ,Fingers ,Depigmentation ,medicine ,Humans ,Abnormalities, Multiple ,Anemia, Dyserythropoietic, Congenital ,business.industry ,Infant ,Dysostosis ,Toes ,medicine.disease ,Dermatology ,Surgery ,Radiography ,medicine.anatomical_structure ,Polysyndactyly ,Pediatrics, Perinatology and Child Health ,Female ,Syndactyly ,Bone marrow ,Congenital disease ,medicine.symptom ,business ,Hand Deformities, Congenital - Abstract
The term congenital dyserythropoietic anaemia (CDA) designates a group of rare but well defined erythrocytic disorders. Type I is defined by macrocytosis and megaloblastic changes of the bone marrow cells. Two unrelated children with CDA are described with associated defects: absence of nails and short or absent phalanges, polysyndactyly of the fourth metacarpal. One of them had also areas of depigmentation.The association of congenital dyserythropoietic anaemia with morphological defects of hands and feet is suggested to constitute a new syndrome caused by a single morphogenetic gene.
- Published
- 1995
- Full Text
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