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Antley Department of Medical Genetics Indiana University School
Familial Pseudomarfanism a New Syndrome?
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1979 The National abnormalities affected individuals anomalies aortic Apert syndrome arachnodactyly Arch autosomal dominant autosomal recessive BD:OAS Bergsma bilateral Birth Defects broad canthal cells cleft palate clinical coloboma Congenital contractural coronal synostosis craniofacial craniosynostosis Crouzon syndrome deafness deformity diagnosis disease disorder distal dominant inheritance dysostosis ears ectodermal dysplasia evaluation examination facial female fingers Foundation—March of Dimes frequency gene Gorlin hearing loss hypertelorism hypoplasia hypoplastic iris limb Malformation Syndromes Marfan syndrome mental deficiency mental retardation midface mild mother mutation nails nasal National Foundation National Foundation—March neurofibromatosis Noonan syndrome normal Number 5B observed ocular OI type Ophthalmol Original Article Series osteogenesis imperfecta patients Pediatr Pedigree penetrance Pfeiffer syndrome phenotype polydactyly pregnancy present proband radiographic reported retinal Rieger syndrome sagittal synostosis sclerae severe showed sibs skeletal skin skull sporadic supraorbital sutures syndactyly synostosis Table thumbs tion tissue toes twins variable expressivity Waardenburg Waardenburg syndrome