The tricho-rhino-phalangeal syndrome. A report of 14 cases in 7 kindreds.
Tricho-rhino-phalangeal syndrome is probably not so much uncommon as unrecognised. Its significance to orthopaedic surgeons, apart from the functionally unimportant minor finger deformities, lies in its mimicking both Perthes' disease and diaphyseal aclasis. The 14 cases analysed in this paper illustrate the wide range of clinical variation.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006197:Hair / Q000002:abnormalities*; D006225:Hand / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital; D006615:Hip / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D007873:Legg-Calve-Perthes Disease / Q000175:diagnosis; D008297:Male; D008875:Middle Aged; D009666:Nose / Q000002:abnormalities*; D011859:Radiography; D013577:Syndrome