Non-dermatological complications and genetic aspects of the Rothmund-Thomson syndrome.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000848:Anodontia / Q000235:genetics; D002648:Child; D003286:Contracture / Q000235:genetics; D004392:Dwarfism / Q000235:genetics; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D008297:Male; D012516:Osteosarcoma / Q000235:genetics; D011038:Rothmund-Thomson Syndrome / Q000235:genetics*; D012871:Skin Diseases / Q000235:genetics*; D013577:Syndrome