title: A boy with severe manifestations of type A1 brachydactyly.
abstract: We describe a male with type A1 brachydactyly, a descendant of Drinkwaters second family. In addition to absence of the middle phalanges of his hands and feet he has generalised skeletal abnormalities, nystagmus and a squint. We suggest that his clinical findings represent the more severe manifestations of this autosomal dominant gene.
authors.affiliation: Department of Clinical Genetics, St Marys Hospital, Manchester, UK.
authors.forename: A
authors.initials: A
authors.lastname: Slavotinek
authors.forename: D
authors.initials: D
authors.lastname: Donnai
mesh_terms: D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009759:Nystagmus, Pathologic / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D013285:Strabismus / Q000235:genetics