The trichorhinophalangeal dysplasia syndrome: report of eight kindreds, with emphasis on hip complications, late presentations, and premature osteoarthrosis.
The trichorhinophalangeal dysplasia syndrome is characterized by peripheral cone-shaped epiphyses and unusual facies and hair. It is generally considered to be an uncommon dysplasia that presents in childhood. Thirteen cases in eight kindreds are reported. In four patients, the diagnosis was not established until after the 40th year, and it is suggested that the dysplasia may present in adult life and be more common than is generally appreciated. The skeletal stigmata of the syndrome are described, with special reference to hip involvement, and a severe and progressive degenerative arthritis is reported.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004838:Epiphyses / Q000002:abnormalities*; D005260:Female; D005271:Femur Head Necrosis / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics; D006197:Hair / Q000002:abnormalities*; D006615:Hip / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D008875:Middle Aged; D009666:Nose / Q000002:abnormalities*; D010003:Osteoarthritis / Q000235:genetics*; D010641:Phenotype; D011859:Radiography; D013577:Syndrome