Trichorhinophalangeal syndrome type I: a novel mutation and Perthes-like changes of the hip in a family with 4 cases over 3 generations.

Abstract

The trichorhinophalangeal syndrome is a rare genetic syndrome with characteristic craniofacial and skeletal abnormalities including hip pathology in variable manifestation. We describe hip involvement with Perthes-like changes and a novel mutation of the TRPSI gene in a family with 4 affected individuals. This case series underlines the clinical significance of rare genetic disorders such as TRPS that among other differential diagnoses should be kept in mind when children present with Perthes-like changes of the hip joint.