Turnpenny P D, Dean J C, Auchterlonie I A, Johnston A W
Medical Genetics, Medical School, Foresterhill, Aberdeen.
J Med Genet. 1992 Jun;29(6):428-9. doi: 10.1136/jmg.29.6.428.
We describe a 7 year old girl whose features satisfy the diagnosis of cardiofaciocutaneous syndrome. Her ectodermal features consist of fine, sparse hair, thin, opalescent nails, finger tip pads, generalised pigmentation of the skin, but no hyperkeratosis. Skin pigmentation and finger tip pads have not been previously reported in this syndrome. Twenty-two cases of CFC have been described but there is debate as to whether it is distinct from Noonan syndrome.
我们描述了一名7岁女孩，其特征符合心脏颜面皮肤综合征的诊断。她的外胚层特征包括毛发纤细稀疏、指甲薄且呈乳白色、指尖垫、皮肤普遍色素沉着，但无角化过度。皮肤色素沉着和指尖垫此前在该综合征中尚未有过报道。已经描述了22例心脏颜面皮肤综合征病例，但对于它是否与努南综合征不同仍存在争议。
