267 results on '"Andrea Guala"'
Search Results
252. Familial adverse events after measles–mumps–rubella (MMR) vaccination
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Leonardo Pagani, Guido Pastore, Vasco Garipoli, and Andrea Guala
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Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Mumps measles rubella ,General Veterinary ,General Immunology and Microbiology ,Measles-Mumps-Rubella Vaccine ,business.industry ,Vaccination ,Public Health, Environmental and Occupational Health ,Infant ,Infectious Diseases ,medicine ,Humans ,Molecular Medicine ,Family ,Female ,Vitamin A ,Adverse effect ,business - Published
- 2002
253. Monozygotic twinning and Wiedemann-Beckwith syndrome
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Piergiorgio Franceschini, Andrea Guala, Maria Paola Vardeu, and Daniele Franceschini
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Genetics (clinical) - Published
- 1993
254. Familial metoclopramide-induced dystonic reactions
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Andrea Guala, Pasquale Fabbrocini, Teresa Ghini, and Daniela Mittino
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Dystonia ,Metoclopramide ,medicine.drug_class ,business.industry ,medicine.disease ,Neurology ,Anesthesia ,Dystonic reactions ,Toxicity ,medicine ,Antiemetic ,Neurology (clinical) ,business ,medicine.drug - Published
- 1992
255. Effects of cisapride on QT interval in infants: A prospective study
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Guido Pastore, Gianpiero Noè, Andrea Guala, Giovanna Licardi, and Francesco Zolezzi
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medicine.medical_specialty ,business.industry ,Sudden infant death syndrome ,Gastroenterology ,QT interval ,Pediatric patient ,High dosage ,Cisapride ,Internal medicine ,Pediatrics, Perinatology and Child Health ,medicine ,Risks and benefits ,Prospective cohort study ,business ,Premature neonate ,medicine.drug - Abstract
1. Lewin MB, Bryant RM, Fenrich AL, Grifka RG. Cisapride-induced long QT interval. J Pediatr 1996;128:279-81. 2. Pettignano R, Chambliss CR, Darsey E, Heard M, Clark R. Cisapride-induced dysrhythmia in a pediatric patient receiving extracorporeal life support. Crit Care Med 1996;24:1268-71. 3. Khongphatthsnayothin A, Lane J, Thomas D, Yen L, Chang D, Bubolz B. Effects of cisapride on QT interval in children. J Pediatr 1998;133:51-6. 4. Hill SL, Evangelista JK, Pizzi AM, Mobassaleh M, Fulton DR, Berul CI. Proarrhythmia associated with cisapride in children. Pediatrics 1998;101:1053-6. 5. Grifka RG. Cisapride high dosage and long QT interval, Reply. J Pediatr 1998;130:164. 6. Cucchiara S. Cisapride therapy for gastrointestinal disease. J Pediatr Gastroentol Nutr 1996;22:259-69. 7. Vandenplas Y, Belli DC, Benatar A, Cadranel S, Cucchiara S, Dupont C, et al. The role of cisapride in the treatment of pediatric gastroesophageal reflux. J Pediatr Gastroentol Nutr 1999; 28:518-28. 8. Shulman RJ, Boyle JT, Colletti RB, Friedman RA, Heyman MB, Kearns G, et al. The use of cisapride in children. J Pediatr Gastroenterol Nutr 1999;28:529-33. 9. Lander A. The risks and benefits of cisapride in premature neonate, infants, and children. Arch Dis Child 1998;79:469-71. 10. Swartz PJ, Stramba-Badiale M, Segantini A, Austoni P, Bosi G, Giorgetti R, et al. Prolongation of QT interval and sudden infant death syndrome. N Engl J Med 1998;338:1709-14. Effects of cisapride on QT interval in infants:A prospective study
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- 2000
256. Hemochromatosis and Diabetes
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Manachino, Domenico, primary, Andrea, Guala, additional, Antonio, Ottinetti, additional, and Renato, Martinotti, additional
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- 1994
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257. Rigid mask-like face, ear anomalies, deafness, preaxial polydactyly and toe malformations in a patient with normal intelligence
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F. Signorile, Piergiorgio Franceschini, M. P. Vardeu, D. Franceschini, Andrea Guala, and A. Testa
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Malar Bones ,Upslanting palpebral fissures ,Thick lower lip ,business.industry ,Preaxial polydactyly ,Normal intelligence ,General Medicine ,Anatomy ,medicine.disease ,Malformed auricles ,Pathology and Forensic Medicine ,body regions ,Hypospadias ,Pediatrics, Perinatology and Child Health ,medicine ,business ,Genetics (clinical) ,Normal intellect - Abstract
We describe a patient with deafness, normal intellect and a unique phenotype characterized by a rigid mask-like face, narrow, upslanting palpebral fissures, flat malar bones, thick lower lip, malformed auricles, preaxial polydactyly with triphalangeal thumbs, syn-ectrodactyly of toes and first degree hypospadias.
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- 1994
258. Stereoselective Reactions with Chiral Schiff Base Metal Complexes
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Andrea Gualandi, Claire Margaret Wilson, and Pier Giorgio Cozzi
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Catalysis ,Lewis acids ,Metal complexes ,Schiff bases ,Stereocontrol ,Chemistry ,QD1-999 - Abstract
Chiral Schiff bases are privileged chiral ligands, capable of transmitting chiral information in many stereoselective processes. Their modular nature, the possibility to modify their electronic character, and their ability to coordinate many metals, gives these chiral ligands broad utility and these have been investigated by many research groups around the world. For more than 20 years our research group has devoted attention to the application of chiral Schiff bases in the development of new stereoselective processes and in this brief survey we present our principal results and achievements in this field.
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- 2017
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259. Al(Salen) Metal Complexes in Stereoselective Catalysis
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Andrea Gualandi, Francesco Calogero, Simone Potenti, and Pier Giorgio Cozzi
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aluminum ,aluminum metal complexes ,salen ,chiral ligand ,Lewis Acid ,catalysis ,stereoselective reactions ,bifunctional catalysis ,organic synthesis ,Organic chemistry ,QD241-441 - Abstract
Salen ligands are a class of Schiff bases simply obtained through condensation of two molecules of a hydroxyl-substituted aryl aldehyde with an achiral or chiral diamine. The prototype salen, or N,N′-bis(salicylidene)ethylenediamine has a long history, as it was first reported in 1889, and immediately, some of its metal complexes were also described. Now, the salen ligands are a class of N,N,O,O tetradentate Schiff bases capable of coordinating many metal ions. The geometry and the stereogenic group inserted in the diamine backbone or aryl aldehyde backbone have been utilized in the past to efficiently transmit chiral information in a variety of different reactions. In this review we will summarize the important and recent achievements obtained in stereocontrolled reactions in which Al(salen) metal complexes are employed. Several other reviews devoted to the general applications and synthesis of chromium and other metal salens have already been published.
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- 2019
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260. Enantio and Diastereoselective Addition of Phenylacetylene to Racemic α-chloroketones
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Pier Giorgio Cozzi, Diego Petruzziello, Montse Guiteras Capdevila, Enrico Emer, Silvia Alesi, and Andrea Gualandi
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alkynylation ,(R,R)-salen ,chloroketones ,Me2Zn ,phenylacetylene ,Organic chemistry ,QD241-441 - Abstract
In this report, we have presented the first diastereoselective addition of phenylacetylene to chiral racemic chloroketones. The addition is controlled by the reactivity of the chloroketones that allowed the stereoselective reaction to be performed at –20 °C. Chiral racemic chloroketones are used in the reaction. By carefully controlling the temperature and the reaction time we were able to isolate the corresponding products in moderate yields and with good, simple and predictable facial stereoselection. Our reaction is a rare example of the use of chiral ketones in an enantioselective alkynylation reaction and opens new perspectives for the formation of chiral quaternary stereocenters.
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- 2011
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261. Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity
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P. N. De Sario, P. Strandoni, G. Lopez Bell, Piergiorgio Franceschini, M. Cirillo Silengo, M. Biagioli, R. Bianco, and Andrea Guala
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Heart Defects, Congenital ,Male ,endocrine system ,medicine.medical_specialty ,Microcephaly ,Pediatrics ,Crying ,Intellectual Disability ,Internal medicine ,Genetics ,medicine ,Humans ,Abnormalities, Multiple ,Genetics (clinical) ,Genes, Dominant ,business.industry ,Infant ,Syndrome ,medicine.disease ,Facial paralysis ,Pedigree ,Endocrinology ,Facial Asymmetry ,Failure to thrive ,Female ,Asymmetric crying facies ,medicine.symptom ,business ,Maternal grandmother ,Aunt ,Facial symmetry - Abstract
An infant boy with asymmetric crying facies, microcephaly, developmental retardation and failure to thrive is reported. His two siblings died in the newborn period because of complex congenital heart defects. The mother and the maternal grandmother have asymmetric crying facies, microcephaly and normal intelligence. A maternal aunt has severe physical and mental retardation, facial asymmetry, microcephaly, and cleft palate. This family allows an expansion of the spectrum of malformations associated with asymmetric crying facies and suggests autosomal dominant inheritance with variable expressivity.
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- 1986
262. The Coffin-Siris Syndrome in two sibblings
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Piergiorgio Franceschini, M. Cirillo Silengo, M. Biagioli, G. Lopez Bell, R. Bianco, and Andrea Guala
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Adult ,Pediatrics ,medicine.medical_specialty ,Autosomal recessive inheritance ,business.industry ,Syndrome ,medicine.disease ,Child, Preschool ,Face ,Intellectual Disability ,Pediatrics, Perinatology and Child Health ,Medicine ,Humans ,Radiology, Nuclear Medicine and imaging ,Female ,business ,Coffin–Siris syndrome ,Growth Disorders - Abstract
Two sisters with Coffin-Siris syndrome, born to healthy unrelated parents, are reported. The accurate X-ray evaluation of the two patients allows the identification of some new features and a better delineation of the radiological phenotype. Our two cases confirm the proposed autosomal recessive inheritance of the syndrome.
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- 1986
263. Interstitial deletion of chromosome 1 (q23-q25). Report of a case
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Piergiorgio Franceschini, G. F. Davi, Giuseppe Novelli, Andrea Guala, M. Biagioli, R. Bianco, and Margherita Silengo
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Genetic Markers ,Heart Defects, Congenital ,Heart disease ,Chromosome Disorders ,Biology ,Long arm ,Intellectual Disability ,Genetics ,medicine ,Humans ,Deletion syndrome ,Abnormalities, Multiple ,Genetics (clinical) ,Chromosome Aberrations ,Psychomotor retardation ,Chromosomes, Human, 1-3 ,Chromosome ,Infant ,Syndrome ,medicine.disease ,Chromosome Banding ,Failure to thrive ,Female ,medicine.symptom ,Chromosome Deletion - Abstract
We describe a 3-month-old female with a de novo interstitial deletion of the long arm of chromosome 1 (1q23–25). Clinical features are failure to thrive, psychomotor retardation, cleft lip and palate, short metacarpals, metatarsals and fingers and a severe congenital heart disease. The four previously reported patients with the same deletion share with ours the distinctive pattern of anomalies of the face and limbs; therefore, it seems now possible to delineate a proximal 1q deletion syndrome.
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- 1984
264. A new syndrome with ocular, skeletal and renal involvement
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Andrea Guala, M. Biagioli, M. Cirillo Silengo, G. Lopez Bell, Piergiorgio Franceschini, and Giuseppe Porcellini
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Adult ,Male ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Pathology ,Adolescent ,Eye disease ,Vision Disorders ,Dwarfism ,Ulna ,Bone and Bones ,Nephropathy ,Fingers ,chemistry.chemical_compound ,Retinitis pigmentosa ,medicine ,Humans ,Abnormalities, Multiple ,Radiology, Nuclear Medicine and imaging ,Nephritis ,business.industry ,Brachydactyly ,Retinal ,Syndrome ,Toes ,medicine.disease ,Surgery ,body regions ,Radius ,chemistry ,Dysplasia ,Pediatrics, Perinatology and Child Health ,Hypertension ,Nephritis, Interstitial ,Female ,Abnormalities ,business ,Retinitis Pigmentosa ,Interstitial ,Multiple ,Retinopathy - Abstract
A patient with retinitis pigmentosa, hypertension with interstitial nephropathy, short limb dwarfism with Madelung deformity of the forearms and an unclassified type of brachydactyly is described. Such bone dysplasia has never been reported to date either as a single entity or associated with renal and retinal diseases.
- Published
- 1987
265. A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait
- Author
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F. Sebastiani, Andrea Guala, Margherita Silengo, and V. Germinetti
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Proband ,medicine.medical_specialty ,Genetic syndromes ,Hearing Loss, Sensorineural ,Eye disease ,Sensorineural deafness ,Cataract ,otorhinolaryngologic diseases ,Genetics ,medicine ,Humans ,Inner ear ,Cochleosaccular Degeneration ,Genetics (clinical) ,Genes, Dominant ,business.industry ,Autosomal dominant trait ,Syndrome ,medicine.disease ,Dermatology ,Pedigree ,medicine.anatomical_structure ,Child, Preschool ,Female ,Sensorineural hearing loss ,sense organs ,business - Abstract
In 1982, Nadol & Burgess reported a new syndrome of cataract and progressive sensorineural hearing loss, inherited in an autosomal dominant fashion. Extensive histopathologic studies of the inner ear of the proband revealed severe cochleosaccular degeneration. No other sporadic or familial cases of such a genetic syndrome have subsequently been described. We report here a second family in which the syndrome of cataract and progressive sensorineural deafness is observed in eight members, and is inherited according to an autosomal dominant pattern.
266. Radiomics-Based Classification of Left Ventricular Non-compaction, Hypertrophic Cardiomyopathy, and Dilated Cardiomyopathy in Cardiovascular Magnetic Resonance
- Author
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Cristian Izquierdo, Guillem Casas, Carlos Martin-Isla, Victor M. Campello, Andrea Guala, Polyxeni Gkontra, Jose F. Rodríguez-Palomares, Karim Lekadir, Institut Català de la Salut, [Izquierdo C, Martin-Isla C, Campello VM, Gkontra P] Artificial Intelligence in Medicine Lab (BCN-AIM), Departament de Matemàtiques i Informàtica, Universitat de Barcelona, Barcelona, Spain. [Casas G, Rodríguez-Palomares JF] Servei de Cardiologia, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain. CIBER-CV, Instituto de Salud Carlos III, Madrid, Spain. Departament de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain. [Guala A] Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain. CIBER-CV, Instituto de Salud Carlos III, Madrid, Spain, and Vall d'Hebron Barcelona Hospital Campus
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medicine.medical_specialty ,Heart diseases ,Local binary patterns ,Cardiomyopathy ,Cardiovascular Medicine ,Malalties del cor ,Radiomics ,Internal medicine ,Diagnosis::Diagnostic Techniques and Procedures::Diagnostic Imaging::Tomography::Magnetic Resonance Imaging [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT] ,Aprenentatge automàtic ,Machine learning ,medicine ,Diseases of the circulatory (Cardiovascular) system ,diagnóstico::técnicas y procedimientos diagnósticos::diagnóstico por imagen::tomografía::imagen por resonancia magnética [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS] ,cardiovascular diseases ,Other subheadings::Other subheadings::/diagnostic imaging [Other subheadings] ,Original Research ,enfermedades cardiovasculares [ENFERMEDADES] ,medicine.diagnostic_test ,Cardiovascular Diseases [DISEASES] ,business.industry ,Sistema cardiovascular - Malalties - Imatgeria per ressonància magnètica ,Hypertrophic cardiomyopathy ,Dilated cardiomyopathy ,Magnetic resonance imaging ,Otros calificadores::Otros calificadores::/diagnóstico por imagen [Otros calificadores] ,medicine.disease ,hypertrophic cardiomyopathy ,dilated cardiomyopathy ,Diagnòstic per la imatge ,machine learning ,radiomics ,RC666-701 ,Cardiology ,cardiovascular system ,left-ventricle non-compaction ,Diagnostic imaging ,Sistema cardiovascular - Malalties - Diagnòstic ,Differential diagnosis ,Cardiology and Cardiovascular Medicine ,business ,Electrocardiography - Abstract
Miocardiopatía dilatada; Miocardiopatía hipertrófica; Radiómica Dilated cardiomyopathy; Hypertrophic cardiomyopathy; Radiomics Miocardiopatia dilatada; Miocardiopatia hipertròfica; Radiòmica Left Ventricular (LV) Non-compaction (LVNC), Hypertrophic Cardiomyopathy (HCM), and Dilated Cardiomyopathy (DCM) share morphological and functional traits that increase the diagnosis complexity. Additional clinical information, besides imaging data such as cardiovascular magnetic resonance (CMR), is usually required to reach a definitive diagnosis, including electrocardiography (ECG), family history, and genetics. Alternatively, indices of hypertrabeculation have been introduced, but they require tedious and time-consuming delineations of the trabeculae on the CMR images. In this paper, we propose a radiomics approach to automatically encode differences in the underlying shape, gray-scale and textural information in the myocardium and its trabeculae, which may enhance the capacity to differentiate between these overlapping conditions. A total of 118 subjects, including 35 patients with LVNC, 25 with HCM, 37 with DCM, as well as 21 healthy volunteers (NOR), underwent CMR imaging. A comprehensive radiomics characterization was applied to LV short-axis images to quantify shape, first-order, co-occurrence matrix, run-length matrix, and local binary patterns. Conventional CMR indices (LV volumes, mass, wall thickness, LV ejection fraction—LVEF—), as well as hypertrabeculation indices by Petersen and Jacquier, were also analyzed. State-of-the-art Machine Learning (ML) models (one-vs.-rest Support Vector Machine—SVM—, Logistic Regression—LR—, and Random Forest Classifier—RF—) were used for one-vs.-rest classification tasks. The use of radiomics models for the automated diagnosis of LVNC, HCM, and DCM resulted in excellent one-vs.-rest ROC-AUC values of 0.95 while generating these results without the need for the delineation of the trabeculae. First-order and texture features resulted to be among the most discriminative features in the obtained radiomics signatures, indicating their added value for quantifying relevant tissue patterns in cardiomyopathy differential diagnosis. This publication was partially funded by the European Union's Horizon 2020 research and innovation euCanSHare project under grant agreement No 825903. KL received funding from the Spanish Ministry of Science, Innovation and Universities under grant agreement RTI2018-099898-B-I00. AG has received funding from the Spanish Ministry of Science, Innovation and Universities (IJC2018-037349-I).
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267. Gershoni-Baruch syndrome: Report of a new family confirming autosomal recessive inheritance
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Andrea Guala, G. Di Cara, G. Botta, Piergiorgio Franceschini, D. Franceschini, D. Licata, G. Angeli, and F. Flora
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Heart Defects, Congenital ,Male ,Pediatrics ,medicine.medical_specialty ,Prenatal diagnosis ,Genes, Recessive ,Ultrasonography, Prenatal ,Pregnancy ,Prenatal Diagnosis ,Medicine ,Humans ,Diaphragmatic hernia ,Abnormalities, Multiple ,Genetics (clinical) ,Single family ,Genetics ,Hernia, Diaphragmatic ,Gershoni-Baruch Syndrome ,Fetus ,Omphalocele ,Autosomal recessive inheritance ,business.industry ,Syndrome ,medicine.disease ,Pedigree ,Radiography ,Female ,Ultrasonography ,business ,Hernia, Umbilical - Abstract
Gershoni-Baruch syndrome is a multiple congenital malformation complex characterized by omphalocele, diaphragmatic hernia, cardiovascular abnormalities, and radial ray defects. Autosomal recessive inheritance is suggested. We describe two additional cases from a single family (sister and brother) delivered through termination at 23 and 9 weeks of gestation, respectively. The first fetus showed a spectrum of schisis defects without any limb involvement while the second bore mainly malformations of hands and feet. The occurrence of two different syndromes in the same family is highly improbable, but, considering both malformation complexes as possible manifestations of the same disease, a diagnosis of Gershoni-Baruch syndrome appears the most reasonable. These new familial cases bring further support to the hypothesis of an autosomal recessive inheritance of this syndrome.
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