The tricho-rhino-phalangeal syndrome revisited

Abstract

The tricho-rhino-phalangeal syndrome (TRPS) is a rare congenital disorder, characterized by (1) a peculiar and somewhat pear-shaped nose, (2) sparse and brittle scalp hair, and (3) radiographic evidence of cone-shaped epiphyses of the hands. On the basis of clinical, radiographic and genetic criteria, two subtypes (type I and II) are discerned. We describe an intermediate "hybrid" variant of the TRPS in a patient with clinical and radiographic features of TRPS type I, but with a clearly abnormal karyotype, consistent with TRPS type II. The radiographic findings of the syndrome are reviewed, with particular emphasis on the cone-shaped epiphyses in the hands, the changes in the coxo-femoral joints and the atypical appearance of the pubic symphysis.