Starr D G, McClure J P, Connor J M
Clin Genet. 1985 Jan;27(1):102-4. doi: 10.1111/j.1399-0004.1985.tb00192.x.
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.
我们报告了两例新的罗思蒙德-汤姆森综合征病例，这些病例突出了一些不太为人所知的非皮肤并发症，即：牙齿发育不全、软组织挛缩、匀称性身材矮小、性腺功能减退、贫血和成骨肉瘤。对这些病例以及先前报告的家系进行的基因分析支持常染色体隐性遗传。
