PubMed · 8613321
The source did not provide an abstract. Follow the original record for more information.
Explore connections, maps & timelines
A Sharma, R Yadav, K Ahlawat. 1995. Cleidocranial dysplasia.. https://pubmed.ncbi.nlm.nih.gov/8613321/
Cite the original work for its findings. Save a collection to share your selection of sources.
KEEP EXPLORING
Duplication of the calcaneus is a rarely observed radiographic finding that probably results from delayed coalescence of two primary calcaneal centers of ossification. We performed a review of 2,500 computerized cases of skeletal dysplasias and syndromes with bone involvement in the International Skeletal Dysplasia Registry, searching for those cases in which a duplicate calcaneus had been recorded. We found that it was a non-random feature of three skeletal dysplasias and groups comprising thanatophoric dysplasia and the chondrodysplasia punctata and short rib (polydactyly) groups. We conclude that duplication of the calcaneus should be considered a consistent feature of these entities and may reflect a more generalized developmental defect.
In this review, a general approach to the congenital and genetic disorders is presented. Differentiation between deformation and malformation is practically important to triage congenial or developmental abnormalities. The disease distribution along arterial supply or sclerotome is more suggestive of developmental or acquired disorder, either in utero or in early infancy. Newly developed genetic analysis of bone dysplasia is an important subject, and this review focuses on collagen abnormalities, systemic disorders associated with neoplasms and receptor disorders. Owing to the progress of molecular genetics and gene therapy, the approach to hereditary conditions will dramatically change. Although most of these diseases are relatively uncommon, the role of diagnostic radiologist may become more important for early institution of treatment planning and estimating prognosis.
We describe a new syndrome of distal limb anomalies and pigmentary skin defects in 10 females of a large, four-generation pedigree. The family was ascertained through a 4-month-old infant girl with multiple anomalies, including hypertelorism, iris colobomas, low-set ears, midface hypoplasia, punched-out pigmentary abnormalities over the face and scalp, generalized brachydactyly, and digital fibromatosis. No affected males were identified in this pedigree. Affected females had a lower than normal male-to-female ratio of liveborn offspring, and some of them also had a history of several miscarriages. These findings, together with a significant variability in the phenotype of the affected females, suggest that this condition is inherited in an X-linked dominant fashion, with prenatal male lethality, and that X-inactivation plays an important role in the phenotypic expression of the disease. The syndrome has been described twice in the literature, but only in sporadic cases; it was therefore not recognized as a mendelian entity. Because the most consistent findings are anomalies of the distal skeleton of the limbs and localized pigmentary abnormalities of the skin, we named the syndrome "terminal osseous dysplasia with pigmentary defects." This condition, though rare, can be added to the small group of male lethal X-linked dominant disorders in humans.