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

Abstract excerpt

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...

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