Severe pseudoachondroplasia with parental consanguinity.
A boy who showed features of the severe form of pseudoachondroplasia, whose parents were first cousins, is reported. Published reports supporting the existence of an autosomal recessive form of this disorder are reviewed.
D000130:Achondroplasia / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D011859:Radiography