Tricho-rhino-phalangeal syndrome type I in a Belgian family.
We report three cases of tricho-rhino-phalangeal syndrome (TRPS) type I in a Belgian family. They presented typical characteristics such as a pear-shaped nose, and short, deformed fingers with cone-shaped epiphyses of some middle phalanges of the hands. Hair growth was practically normal in our patients, except for some narrowing of the lateral part of the eyebrows. Perthes-like hip dysplasia was documented in two of our cases. The proband presented at the age of 31 with Kienböch's disease of the right wrist. Blood and urine analysis showed no clear anomalies. In this patient, echography revealed a renal cyst containing a stone. The relationship of these findings to TRPS is discussed.
D000328:Adult; D001530:Belgium; D004838:Epiphyses / Q000002:abnormalities; D005260:Female; D006201:Hair Diseases / Q000235:genetics*; D006801:Humans; D007873:Legg-Calve-Perthes Disease / Q000235:genetics; D009666:Nose / Q000002:abnormalities*; D010003:Osteoarthritis / Q000235:genetics; D010007:Osteochondritis / Q000235:genetics*; D013577:Syndrome