Non‐dermatological complications and genetic aspects of the Rothmund‐Thomson syndrome

Abstract

We report two new cases of Rothmund-Thomson syndrome which emphasize the less well-known non-dermatological complications, namely: hypodontia, soft tissue contractures, proportionate short stature, hypogonadism, anaemia and osteogenic sarcoma. Genetic analysis of these and previously reported pedigrees supports autosomal recessive inheritance.