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A case study of an infant girl with SCD2 complicated with respiratory dysfunction at birth, is presented. Topics include clinical trials on high-flow nasal cannula therapy in a case of spondylocostal dysostosis type 2; Spondylocostal dysostosis (SCD) is a rare genetic disorder causing multiple malformations of the ribs and vertebrae; and infant was born at 40 weeks of gestation to non-consanguineous, healthy parents lacking family histories of inherited diseases.

Congenital dyserythropoietic anemia type I (CDA I) is a rare autosomal recessive disorder with ineffective erythropoiesis, characteristic morphological abnormalities of erythroblasts, and iron overloading. CDA I is caused by mutations in the CDAN I gene, encoding a protein named codanin-1. Complex bone abnormalities, especially syndactyly, have not been systematically described with this disease. We present two cases of morphologically and genetically confirmed CDA I with striking bone abnormalities and response to treatment with alpha-interferon. Our cases clearly document the association of skeletal anomalism with CDA I and indicate that codanin-1 may play a role in the development of the skeleton. [ABSTRACT FROM AUTHOR]

It is increasingly recognized that comorbidity is common in all fields of psychiatry, and furthermore, it is acknowledged that a large number of individuals with genetically determined conditions have associated behavioural phenotypes, and are more susceptible to particular psychiatric and psychological comorbidities than others. It is also recognized that the identification of such phenotypes enables clinicians to be more aware of the potential difficulties an individual may experience, and hence, facilitate early diagnosis, effective management and prevention, appropriate allocation of resources and psychoeducation for the individual and their family. We describe the case report of a girl with cleidocranial dysostosis (CCD), and comorbid intellectual disability and attention deficit hyperactivity disorder (ADHD), and suggest the possible existence of a behavioural phenotype. We also highlight the lack of an evidence base for the management of ADHD within the learning-disability population, and describe successful management utilizing the current evidence base, which exists for those of average intellectual ability. [ABSTRACT FROM AUTHOR]

Skeletal dysplasia is a group of disorders of the skeleton that result from derangement of growth, development and/or differentiation of the skeleton. Nearly 300 disorders are included; most of them are monogenic diseases. Responsible genes for skeletal dysplasia have been identified in more than 150 diseases mainly through positional cloning. Identification of disease genes would improve patient care through genetic diagnosis as well as improving our understanding of the diseases and molecular mechanism of skeletal tissue formation. Studies of skeletal dysplasia would also help identify disease genes for common diseases affecting bones and joints. In this study, the author reviews recent advances and the current status of the genetic analysis of skeletal dysplasia and its impacts on research into skeletal biology. [ABSTRACT FROM AUTHOR]

The article presents an overview of musculoskeletal manifestations in patients with mucopolysaccharidosis (MPS). Mucopolysaccharidosis is caused by an enzyme deficiency that leads to the accumulation of glycosaminoglycans. The different clinical manifestations of MPS includes alteration of endochondral ossification with disproportional growth retardation and having coarse facial features and radiological signs of dysostosis multiplex. The most frequent surgeries in patients with MPS is cervical decompression.

Weyers acrofacial dysostosis (MIM 193530) is an autosomal dominant disorder clinically characterized by mild short stature, postaxial polydactyly, nail dystrophy and dysplastic teeth. Ellis–van Creveld syndrome (EvC, MIM 225500) is an autosomal recessive disorder with a similar, but more severe phenotype. Mutations in the EVC have been identified in both syndromes. However, the EVC mutations only occur in a small proportion of EvC patients. Recently, mutations in a new gene, EVC2, were found to be associated with other EvC cases. The EVC and EVC2 are located close to each other in a head-to-head configuration and may be functionally related. In this study, we report identification of a novel heterozygous deletion in the EVC2 that is responsible for autosomal dominant Weyers acrofacial dysostosis in a large Chinese family. This constitutes the first report of Weyers acrofacial dysostosis caused by this gene. Hence, the spectrum of malformation syndromes due to EVC2 mutations is further extended. Our data provides conclusive evidence that Weyers acrofacial dysostosis and EvC syndrome are allelic and genetically heterogeneous conditions. [ABSTRACT FROM AUTHOR]

Background: The observation that some patients with schizophrenia display subtly anomalous craniofacial features dates back to the early 1900s and has recently been hypothesized to reflect disrupted prenatal development also involving the brain. Most studies to date have used observer ratings rather than physical measurements and have studied only Caucasian samples. Our objective was to determine whether schizophrenia is associated with craniofacial anomalies applying quantitative methods in Caucasian and African American subjects. Methods: Participants were 32 Caucasian and 20 African American outpatients aged 18 to 60, meeting Structured Clinical Interview for DSM-IV (SCID) confirmed criteria for schizophrenia/schizoaffective disorder, recently discharged from a psychiatric hospital in Queens, New York. The healthy control subjects were recruited through local advertisements and were individually matched to the patient sample on gender, race, and age. Results: Thirty-two measurements of the head and face reflecting all regions of potential developmental significance were taken according to published methods and validated for this study. Significantly greater skull base width [F(1,51) = 13.11, p = .0005] and greater height of the cutaneous lower lip [F(1,51) = 7.90, p = .0059] were found among patients after applying multiplicity correction. Statistical correction for group differences in body weight did not alter the findings. Conclusions: Findings agree with the two major anthropometric studies in schizophrenia. [Copyright &y& Elsevier]

Mutations in the DSL (Delta, Serrate, Lag2) Notch (N) ligand Delta-like (DII) 3 cause skeletal abnormalities in spondylocostal dysostosis, which is consistent with a critical role for N signaling during somitogenesis. Understanding how DII3 functions is complicated by reports that DSL ligands both activate and inhibit N signaling. In contrast to other DSL ligands, we show that DII3 does not activate N signaling in multiple assays. Consistent with these findings, DII3 does not bind to cells expressing any of the four N receptors, and N1 does not bind DII3-expressing cells. However, in a cell-autonomous manner, DII3 suppressed N signaling, as was found for other DSL ligands. Therefore, DII3 functions not as an activator as previously reported but rather as a dedicated inhibitor of N signaling. As an N antagonist, DII3 promoted Xenopus laevis neurogenesis and inhibited glial differentiation of mouse neural progenitors. Finally, together with the modulator lunatic fringe, DII3 altered N signaling levels that were induced by other DSL ligands. [ABSTRACT FROM AUTHOR]

Summary: Objective:: To describe the otologic and audiologic characteristics of pediatric patients with Nager acrofacial dysostosis. Design:: Retrospective case series. Setting:: Multidisciplinary clinic in a tertiary care children''s hospital. Subjects:: Patients less than 18 years of age with Nager acrofacial dysostosis. Methods:: Nager syndrome is a mandibulofacial dysostosis associated with preaxial limb abnormalities and multiple craniofacial anomalies. Ten patients with Nager syndrome were reviewed. Relevant literature, 1966 to the present, was reviewed with the assistance of Medline. Results:: External and middle ear abnormalities are common in Nager syndrome. All non-atretic ears had significant difficulty with otitis media, requiring an average of two sets of tympanostomy tubes. Cholesteatoma was diagnosed in one patient. Pure conductive hearing loss was identified in eight patients with mixed hearing loss noted in two patients. Conductive hearing loss greater than 30dB HL was noted in 90% (9/10) of patients, with 40% (4/10) having 55–70dB HL loss. Although amplification was effective, results of surgical interventions to correct conductive hearing loss were inconsistent. Two patients with mixed hearing loss developed the sensorineural component in later childhood, indicating that progressive or fluctuating sensorineural hearing loss is also possible in this population. Conclusions:: Pediatric patients with Nager acrofacial dysostosis exhibit conductive hearing loss due to middle and external ear pathology. Prolonged ventilation of the middle ear via tympanostomy tubes and amplification with hearing aids are often required. Some patients also demonstrate mixed hearing loss that may be progressive and should be monitored carefully. Early and aggressive management in a multidisciplinary team approach is recommended. [Copyright &y& Elsevier]

Abstract: In our case report and literature review, we report about a female newborn with severe asphyxiating thoracic dysplasia of the spondylocostal dysostosis classification to whom an expandable thoracoplasty with metal implants offered survival and discharge at home from newborn to infancy. [Copyright &y& Elsevier]

The current management of craniosynostosis is focussed on an affected child who presents with abnormality of the head shape shortly after birth. We report four cases of non-syndromic craniosynostosis, recently seen in a 4-month period, presenting to the Australian Craniofacial Unit (ACFU) where all the mothers had prolonged and difficult labour. This included emergency caesarian section in two cases, and perineal repair in the other two cases. Interestingly, all these women had undergone pre-natal ultrasound examination and critical retrospective review highlighted that craniosynostosis could be observed in their children pre-natally. These cases highlight that children with craniosynostosis at birth can be associated with morbidity of both mother and her child, but this may be preventable as careful review of an ante-natal ultrasound examination tends to reveal craniosynostosis. [ABSTRACT FROM AUTHOR]

Jarcho-Levin syndrome (JLS; spondylothoracic dysplasia) is a congenital disease characterized by multiple vertebral and rib malformations, causing a short trunk dwarfism commonly leading to respiratory insufficiency and death during the first years of life. We describe a case diagnosed during the second trimester routine ultrasound scan for screening of fetal anomalies without a previous family history. The fetus had a severe disorganization of the spine and ribs, skeletal kyphosis, with several hemivertebrae and a small thorax. All of the findings at postmortem examination confirmed the ultrasound features and were consistent with the JLS. To the best of our knowledge there is only one case reported in the literature of a prenatal diagnosis of the syndrome in a family with low risk for the condition. [ABSTRACT FROM AUTHOR]

Objective: This article is a qualitative approach to understanding how people with craniofacial conditions see quality in their lives and how they understand the components of building a sense of well-being or goodness in their lives. Literary selections from fiction, Web sites, and first-person accounts are examined and categorized into domains and themes to offer some insight into how quality of life is built into the lives of people with craniofacial conditions. Three domains are noted: (1) a personality and psychological domain; (2) a family, work, and social interactive domain; and (3) a cultural and societal domain. Within each domain, a number of themes are noted and discussed. Quotes from affected people and their families are offered to illustrate how they respond to and alter their lives and their world views. Many adults with craniofacial conditions find ways to live with their difference and to succeed using the measures [This symbol cannot be presented in ASCII format]they construct. [ABSTRACT FROM AUTHOR]

Provides information about appendicular dysostosis in canine and feline. Details on the abnormal developmental embryologic processes that lead to dysostosis; Diagnostic approach; Ethical dilemma over the treatment of the disease.

Spondylocostal dysostosis (SCD) is a term given to a heterogeneous group of disorders characterized by abnormal vertebral segmentation (AVS). We have previously identified mutations in the Delta-like 3 (DLL3) gene as a major cause of autosomal recessive spondylocostal dysostosis. DLL3 encodes a ligand for the Notch receptor and, when mutated, defective somitogenesis occurs resulting in a consistent and distinctive pattern of AVS affecting the entire spine. From our study cohort of cases of AVS, we have identified individuals and families with abnormal segmentation of the entire spine but no mutations in DLL3, and, in some of these, linkage to the DLL3 locus at 19q13.1 has been excluded. Within this group, the radiological phenotype differs mildly from that of DLL3 mutation-positive SCD and is variable, suggesting further heterogeneity. Using a genomewide scanning strategy in one consanguineous family with two affected children, we demonstrated linkage to 15q21.3-15q26.1 and furthermore identified a 4- bp duplication mutation in the human MESP2 gene that codes for a basic helix-loop-helix transcription factor. No MESP2 mutations were found in a further 7 patients with related radiological phenotypes in whom abnormal segmentation affected all vertebrae, nor in a further 12 patients with diverse phenotypes. [ABSTRACT FROM AUTHOR]

Summary:I-cell disease or mucolipidosis type II, a rare inherited storage disorder of lysosomal enzyme localization, is characterized by dysostosis multiplex, progressive severe psychomotor retardation and death by 5-8 years from congestive heart failure and recurrent pulmonary infections. A 19-month old girl with I-cell disease received a bone marrow transplant (BMT) from an HLA-identical carrier brother. At the age of 7 years, 5 years after BMT, she has no history of respiratory infections. Her cardiac function remains normal with a shortening fraction of 47%, and she continues to gain neurodevelopmental milestones, albeit at a very slow rate. Musculoskeletal deformities have worsened despite BMT. This is the first report describing neurodevelopmental gains and prevention of cardiopulmonary complications in I-cell disease after BMT.Bone Marrow Transplantation (2003) 32, 957-960. doi:10.1038/sj.bmt.1704249 [ABSTRACT FROM AUTHOR]

In reports on children with congenital segmental costovertebral malformations who showed neural tube defects, cases with type I split cord malformation are quite rare. Up to now such association has been reported only in two cases with Jarcho-Levin syndrome. Here, a 7-year-old girl presenting with spondylocostal dysostosis and type I split cord malformation is reported. To the best of our knowledge, this is the first case documented in the literature. The association of segmental costovertebral malformations and neural tube defects is discussed. Genetic and embryological studies are also briefly reviewed. [ABSTRACT FROM AUTHOR]

Segmentation is a fundamental process in vertebrate embryogenesis, and one of the earliest manifestations of segmental patterning is the generation of transient, serially repeated blocks of mesodermal cells known as somites. Disruption of the normal segmentation process in humans leads to vertebral abnormalities such as spondylocostal dysostosis. In this minireview, we discuss recent advances in the dynamic molecular and cellular mechanisms governing segmentation. [Copyright &y& Elsevier]

Summary:Alpha-mannosidosis (a-mannosidosis) is a lysosomal storage disease characterized by accumulation of oligosaccharides in various tissues leading to symptoms such as coarse facial features, dysostosis multiplex, hearing disabilities, mental developmental delay and skeletal involvement (dysostosis multiplex). Without treatment, the severe infantile onset form of this autosomal recessive disease leads to progressive neurodegeneration and sometimes to early death. Stem cell transplantation has been shown to be an effective treatment. In the five patients published so far, correction of skeletal abnormalities and improvement of neuropsychological capabilities have been observed. We report the first patient who received a T-cell-depleted peripheral blood stem cell transplantation (PBSCT) for a-mannosidosis. The diagnosis of a-mannosidosis was made at the age of 14 months. At the age of 24 months, he underwent PBSCT with T-cell depletion by CD34-positive selection from his HLA phenotypically identical mother. Conditioning was carried out with busulfan (20?mg/kg), cyclophosphamide (200?mg/kg), OKT3 and methylprednisolone. The patient is alive and well 27 months after PBSCT and has made significant developmental progress. The pattern of urinary oligosaccharides has returned to almost normal. CD34-positive-selected PBSCT is a feasible option to reduce risk for GVHD for these patients.Bone Marrow Transplantation (2003) 32, 443-446. doi:10.1038/sj.bmt.1704148 [ABSTRACT FROM AUTHOR]

In 1982, one of us reported a cluster of eight individuals affected by spondylocostal dysostosis (SD, MIM 277300) in four nuclear families indigenous to a village from eastern Switzerland. We tested the hypothesis that the molecular basis for this cluster was segregation of a single mutation in the DLL3 gene, recently linked to SD. Marker haplotypes around the DLL3 locus contradicted this hypothesis as three different haplotypes were seen in affected individuals, but sequence analysis showed that three unreported DLL3 mutations were segregating: a duplication of 17 bp in exon 8 (c.1285–1301dup), a single-nucleotide deletion in exon 5 (c.615delC), and a R238X nonsense mutation in exon 6. Contrary to our initial assumption of a single allele segregating in this small community, three different pathogenic alleles were observed, with a putative founder mutation occurring at the homozygous state but also compounding with, and thus revealing, two other independent mutations. As all three mutations predict truncation of the DLL3 protein and loss of the membrane-attaching domain, the results confirm that autosomal recessive spondylocostal dysostosis represents the null phenotype of DLL3 , with remarkable phenotypic consistency across families. [ABSTRACT FROM AUTHOR]

Although many constitutional disorders of bone are individually rare, collectively they make up a large group of disorders. They are broadly classified into osteochondrodysplasias and dysostoses. Because of the rarity of some of these conditions, they can be difficult to diagnose. Members of the International Dysplasia Group meet regularly to update and clarify the nomenclature. The last meeting was in Oxford in 2001. This article attempts to highlight the differences between the osteochondrodysplasias and the dysostoses, and provides a systematic approach to their radiological diagnosis. [ABSTRACT FROM AUTHOR]

Anomalies such as cranio-frontonasal dysplasia and midline clefts can often be associated with a low or raised hairline. There may also be a central "widow's peak" deformity. After correction of the skeletal deformity this soft tissue problem is addressed to produce a better end result. In order to move the hairline tissue expansion of the forehead has been used. Once the forehead expansion is achieved, the hairline can be moved backwards or forwards. A series of three cases is presented. [ABSTRACT FROM AUTHOR]

Craniofrontonasal syndrome is a rare dysostosis syndrome with an unusual pattern of X-linked inheritance, because males are usually not or less severely affected than females. Previously, a CFNS locus has been localised in Xp22. We report on a haplotype analysis in a German CFNS family, mapping the CFNS locus to the pericentromeric region of the X chromosome. This discrepancy can be explained by locus heter- ogeneity. Furthermore, random X inactivation could be demonstrated in affected females. The most plausible interpretation for this unusual pattern of X-linked inheritance is metabolic interference. Consequently, we propose that the CFNS gene escapes X inactivation. Copyright © 2002 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Background: Treacher Collins syndrome (TCS), the most common type of mandibutofacial dysostosis (MFD), is genetically homogeneous. Other types of MFD are less common and, of these, only the Bauru type of MFD has an autosomal dominant (AD) mode of inheritance established. Here we report clinical features of a kindred with a unique AD MFD with the exclusion of linkage to the TCS locus (TCOF1) on chromosome 5q31-q32. Methods: Six affected family members underwent a complete medical genetics physical examination and two affected subjects had skeletal survey. All available medical records were reviewed. Linkage analysis using the markers spanning the TCOF1 locus was performed. One typically affected family member had a high resolution karyotype. Results: Affected subjects had significant craniofacial abnormalities without any significant acral changes and thus had a phenotype consistent with a MFD variant. Distinctive features included hypaplasia of the zygomatic complex, micrognathia with malocclusion, auricular abnormalities with conductive hearing loss, and ptosis. Significantly negative two point lod scores were obtained for markers spanning the TCOF1 locus, excluding the possibility that the disease in our kindred is allelic with TCS. High resolution karyotype was normal. Conclusions: We report a kindred with a novel type of MFD that is not linked to the TCOF1 locus and is also clinically distinct from other types of AD MFD. identification of additional families will facilitate identification of the gene causing this type of AD MFD and further characterisation of the clinical phenotype. [ABSTRACT FROM AUTHOR]

A 3-year-old girl was admitted to our department with spina bifida occulta. At birth, thoracic dysplasia with severe respiratory dysfunction and a soft pedunculated mass connecting with an intradural mass were noted. The patient did not start to walk and partial removal of the intradural mass was performed via a laminectomy of the fused vertebrae. There was no boundary between the spinal cord and the mass and the histological diagnosis of this mass was connective tissue. The anomalies in this case were considered to be multiple vertebral segmentation disorder (MVSD) and limited dorsal myeloschisis. The coincidence of these anomalies might suggest the causal genesis of MVSD.Copyright © 2002 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

We describe our experience with the use of a polymeric biodegradable system for the correction of congenital pediatric craniofacial malformations. These fixation methods present several advantages over conventional metallic fixation systems. Our series consists of 51 patients that underwent craniofacial surgery, 46 for craniosysostosis, and 5 for encephalocele. The mean age of the patients was 3 years (median age 9 months). Patients with coronal or metopic craniosynostosis underwent a bifrontal craniotomy and anterior cranial vault and orbital reconstruction. Three patients with late sagittal synostosis underwent cranial vault reconstruction in two stages. Encephalocele defects were repaired with osteotomies, and/or onlay bone graft. Lactosorb (Lorenz Biomet, Warsaw, Ind.) plates (cut from a prefabricated mesh) and screws were employed using established fixation techniques. Cranial bone was the source of all bone graft when required. Pre- and postoperative clinical, radiographic and photographic examinations were performed on all patients. At 2 years follow-up, no evidence of infection, erythema, extrusion, instability of the bony fragments or relapse has been noted. The plates themselves were universally impalpable by the one year follow-up examination. The results in this series support the use of resorbable fixation systems in the correction of congenital craniofacial deformities.Copyright © 2001 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Background. Odontoid dysplasia is recognized as a major component of the constellation of dysostosis multiplex lesions associated with Hurler's syndrome (MPS 1H). Because of this abnormality, there is an increased risk of atlantoaxial subluxation with potential cervical spinal cord injury. A significant alteration of the natural history of the disease with respect to the visceral, cardiac, and skeletal systems has resulted in an increased life span for MPS 1H patients associated with engraftment from normal donors.¶Objective. The purpose of this study was to evaluate the longitudinal changes of odontoid dysplasia in MPS 1H following engraftment from bone-marrow transplantation (BMT).¶Materials and methods. A retrospective review of sequential plain film or cervical spine MR was performed in patients with MPS 1H. Odontoid morphology was graded as aplasia, severe dysplasia, moderate dysplasia, mild dysplasia, or normal. Odontoid morphology was plotted against the time interval. Fully engrafted, nontransplanted, and partially engrafted patients had careful imaging evaluation of the odontoid process.¶Results. Ten patients were studied with a mean interval follow-up of 8.7 years post-BMT. Seven patients were totally engrafted. Two patients were nontransplanted, and one patient had only partial engraftment (20 % enzyme activity). All totally engrafted patients had a progressive improvement in the grade of odontoid dysplasia following BMT. Patients with partial engraftment or without transplantation demonstrated static or increasing odontoid dysplasia. MR imaging showed abnormal dural soft-tissue masses at the level of C2 in all patients. Reduction in the grade of odontoid dysplasia was not associated with significant change in the appearance of the upper cervical soft-tissue masses.¶Conclusion. For the first time, this report documents that patients with MPS 1H show a decrease in the degree of odontoid dysplasia on imaging after successful engraftment following BMT. [ABSTRACT FROM AUTHOR]

The article focuses on the role of expanded polyalanine tracts at QA domain in development of clavicular of cleidocranial dysplasia (CCD). Topics discussed include development of clavicular hypoplasia featuring CCD, role of runt-related transcription factor 2 (RUNX2) which maps to chromosome 6p21 as a causative gene for CCD, and need of single amino acid repeat containing proteins (SARPs) to form multiprotein complexes.

We report pyknodysostosis presenting as extramedullary haematopoiesis in one of two siblings and as obstructive airway disease in the other. Visceral manifestations are rare and have been reported in only two cases in the Indian literature. They have often been mistaken for osteopetrosis, haemolytic anaemia and other osteochondrodystrophies. The cases we report illustrate that, though the physical characteristics may be similar, it is the radiological features that are typical and help establish the diagnosis. [ABSTRACT FROM AUTHOR]

The morphology of an East Indian, dry skull exhibiting the characteristics of mandibulofacial dysostosis (MFD) is described. The skull was small, but the shape of the calvarium was essentially normal. Extensive anomalies were registered in the sphenoid bone, the temporal bone, the zygomatic bone, the maxilla, and the mandible. A lateral cephalometric radiograph of the skull was compared with a mean value diagram of adult Danish males in order to illustrate the morphologic aberrations of the MFD skull. The etiology and pathogenesis of the syndrome are discussed. [ABSTRACT FROM AUTHOR]

Presents the entire exon/intron genomic structure and complete coding sequences of the gene TCOF1 which expresses in the Treacher Collins Syndrome (TCS), a human mandibulofacial dysostosis disorder. Encoding of a low complexity protein of 1411 amino acids whose predicted protein structure reveals repeated motifs.

Head flexion and extension movements near the natural head position (NHP) were analysed for the location of the mean instantaneous centre of rotation (ICR). Forty-six healthy young adults (30 women and 16 men) with sound dentitions, free from cranio-cervical disorders, performed habitual movements that were automatically detected and measured by an infrared three-dimensional motion analyser. ICR and curvature radius were calculated for each movement and subject. In both extension and flexion, ICR position changed during the motion. The movement was symmetrical in all subjects. No gender or flexion/extension differences were found for both ICR position and relevant curvature radius. On average, ICR relative to NUP soft-tissue nasion was located at about 150% of the soft-tissue nasion-right tragus distance, with an angle of about 220C relative to the true horizontal. Results suggest that head flexion or extension is always performed with a combination of rotation (atlanto-occipital joint) and translation (cervical spine) even in the first degrees of motion. Moreover, NHP at rest seems to be some degree more flexed and anterior than head position during movements. These relative positions and their muscular determinants could also influence mandibular posture at rest and during functional movements. [ABSTRACT FROM AUTHOR]

The present study was performed to derive cephalometric standards for Saudi Arabian boys aged from 9-12 years. The sample was then compared with a British sample aged 9-12 years to detect statistical differences. The differences between both samples demonstrated a slightly prognathic Saudi face, more protrusive upper and lower incisors, and low Gonial and saddle angles. [ABSTRACT FROM AUTHOR]

Three children who developed pancraniosynostosis after surgery to correct nonsyndromic single suture synostosis (2 sagittal, 1 unilateral coronal) were noted on prolonged follow-up to have a decreased rate of head growth, and beaten copper findings on plain radiographs of the skull. All had elevated intracranial pressure as recorded by lumbar puncture. The children were reoperated, and then cranial growth resumed, and the radiographic abnormalities resolved. Because of the risk of pancraniosynostosis after surgery for single suture craniosynostosis, extended neurosurgical follow-up for patients with craniosynostosis is warranted. [ABSTRACT FROM AUTHOR]

Abstract. A case of Jansen's metaphyseal dysostosis, a rare disorder of endochondral ossification, is described. This is the first case in which the severe radiographic manifestations of this disease were detected at birth. Linear growth is significantly retarded at 2 years of age. Nevertheless, because full ossification with trabeculae is anticipated, early recognition axed appropriate management during the phase of active growth should minimize deformities. [ABSTRACT FROM AUTHOR]

Abstract. Two siblings, 9 and 4 1/2 years old, had alpha-L-fucosidase deficiency, angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex. It appears that genetic heterogeneity is present in fucosidosis; there are at least two types. In type 1, patients have no vascular lesions, but have rapid psychomotor regression, severe and rapidly progressing neurologic signs, elevated sodium and chloride excretion in the sweat, and fatal outcome before the sixth year. In type 2, patients have angiokeratoma, milder psychomotor retardation and neurologic signs, longer survival, and normal salinity in the sweat. Quantitative studies on erythrocytes and in saliva disclosed severely increased expressions of Le[sup a] and Le[sup b]. Biopsies of skin and gingiva showed alterations as seen in angiokeratoma. There was also evidence of lysosomal storage in vascular endothelinm, eccrine sweat gland epithelium, and fibroblasts of the skin. Pediatrics, 57:205-213, 1976, FUCOSIDOSIS, GENETIC HETEROGENEITY, LYSOSOMAL STORAGE DISEASES, MUCOLIPIDOSES. [ABSTRACT FROM AUTHOR]

Metachromatic leukodystrophy (MLD) is one of the most severe genetically determined demyelination diseases. It is caused by a deficit in the activity of sulfatide sulfatase. The diagnosis is made by demonstrating a deficiency of arylsulfatase A (ASA) activity in leukocytes or cultured skin fibroblasts. Diagnosis based only on the activity of ASA is complicated by the fact that there exists a condition of ASA pseudodeficiency (Pd). Due to the relatively high risk of the MLD/Pd and MLD[sub Pd] /Pd genotypes among families of patients, it is possible to make an erroneous diagnosis on the basis of only ASA activity. Nonetheless, it seems necessary to develop a reliable and simple diagnostic procedure so as to enable diagnosis and genetic counseling for carriers. We present two diagnostic flow charts entailing determination of ASA activity, identification of the pseudodeficit mutation and detection of sulfatides in a 24-hour urine collection. [ABSTRACT FROM AUTHOR]