New clinical observations in the trichorhinophalangeal syndrome.
Two unrelated Jewish families are reported with new clinical and radiographic findings observed in the trichorhinophalangeal syndrome (TRPS). These new observations are mainly of a skeletal nature and emphasize the wide range of expressivity found in the TRPS. Furthermore, these bony defects along with the characteristic hair changes suggest that the basic defect in this syndrome involves some developmental alteration in the normal growth and maturation of bone and hair.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D000328:Adult; D000368:Aged; D001842:Bone and Bones / Q000002:abnormalities; D002675:Child, Preschool; D005260:Female; D006197:Hair / Q000002:abnormalities; D006801:Humans; D008297:Male; D011859:Radiography