Trichorhinophalangeal syndrome type I: symptoms and signs, radiology and genetics

Abstract

The present study shows the occurrence of the trichorhinophalangeal syndrome type I in a Swedish family. Five members were affected and they were examined clinically and radiologically, and four of them were also cytogenetically examined. Three of them had dysplasia of the hip joints reminiscent of the Legg-Calvé-Perthes disease. Functional hand problems were common. High resolution G banding displayed normal chromosome complements. The inheritance was autosomal dominant. The data presented stress the importance of identifying the syndrome early in life so as to prevent the development of impaired hand and hip function.