Pseudoachondroplasia, a report of 13 cases.
Pseudoachondroplasia is a heterogeneous inherited skeletal dysplasia in which dwarfism is a major feature. Affected individuals have a normal craniofacial appearance and the skeletal malformations do not become apparent until early childhood. Radiographic changes observed in 13 affected individuals include shortening of tubular bones, flaring of metaphyses, variable epiphyseal maldevelopment and some degree of vertebral end-plate malformation. Diagnostic precision is essential for effective management and genetic counselling.
D000130:Achondroplasia / Q000000981:diagnostic imaging* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D011859:Radiography