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10.1002/ajmg.1320460623.abs Frontonasal dysplasia is thought to be a sporadic condition limited to the face and head. We describe a family from the Bahamas in which a mother, 2 of her children, and the mother's brother have variable manifestations of frontonassal dysplasia. The mother has...
10.1002/ajmg.1320460634.abs Supravalvular aortic stenosis (SVAS) is an autosomal dominant disorder characterized by abnormalities of development of the great vessels. SVAS is also commonly part of Williams syndrome. Linkage to the elastin gene on chromosome 7q11 has recently been reported in two...
10.1002/ajmg.1320460611.abs We report on mandibulofacial dysostosis in 2 brothers born to normal nonconsanguineous parents, and a girl (F = 1/16) born to normal consanguineous parents. Normal clinical, skeletal, audiologic, and cephalometric studies in the parents, as well as the absense of limp...
10.1002/ajmg.1320460620.abs Acalvaria is a rare malformation usually regarded as a postneurulation defect. It consists of absense of the calvarial bones, dura mater and associated muscles in the presence of a normal skull base and normal facial bones. The condition is frequenctly confused by...
10.1002/ajmg.1320460603.abs A mother and daughter are described with similar facial and skeletal manifestations. The syndrome consists of blepharophimosis, malar hypoplasia, small thin lips, and long tapering fingers. The facial phenotype changes with age. Autosomal dominant inheritance is...
10.1002/ajmg.1320460625.abs Recently, we evaluated a 27‐month‐old boy with congenital generalized nonspecific myopathy, Möbius sequence, Robin sequence, and failure to thrive. We think the child has the same entity described by Carey, Fineman, and Ziter in 1982 (J Pediatr 101:353–364) and...
10.1002/ajmg.1320460605.abs We describe a male patient with a pericentric inversion of chromosome 6 and classic cleidocranial dysplasia (CCD), mild to moderate mental retardation, hearing deficiency, and unusual facial appearance. We conclude that there is a causal relationship between the...
10.1002/ajmg.1320460626.abs A girl with fully expressed osteopathia striata with cranial sclerosis (OS) was also found to have a contraction of the two visual fields, a sign never previously described in OS syndrome. We suggest that the visual field defect is a component manifestation of OS...
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