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Phenotype Definition and Recurrence Risk in
Variable Expressivity in the Skeletal Dysplasias
Penetrance and Variability in Anterior Chamber
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1979 The National abnormalities affected individuals affected members anomalies aortic Apert syndrome arachnodactyly Arch autosomal dominant autosomal recessive BD:OAS Bergsma bilateral Birth Defects broad canthal cells cleft palate Clin clinical coloboma Congenital contractural cornea coronal synostosis craniofacial craniosynostosis Crouzon syndrome deafness deformity diagnosis disease disorder distal dysostosis ectodermal dysplasia evaluation examination facial fingers Foundation-March of Dimes frequency gene Gorlin hearing loss heterogeneity hypertelorism hypoplasia iris limb Malformation Syndromes manifestations Marfan syndrome mental retardation mild mother mutation nails nasal National Foundation National Foundation-March neurofibromatosis Noonan syndrome Number SB observed ocular Ophthalmol Original Article Series osteogenesis imperfecta patients Pediatr Pedigree penetrance Pfeiffer syndrome phenotype polydactyly pregnancy present proband radiographic reported retinal Rieger syndrome sclerae severe showed sibs skeletal skin skull sporadic sutures syndactyly synostosis Table tion toes twins variable expressivity Volume XV Waardenburg Waardenburg syndrome