Ribeiro de Castro Maria Cristina, de Aquino Adriana Moura, Camilo Carlos, Maceira Juan Piñeiro, Ramos-e-Silva Marcia
Sector of Dermatology, HUCFF-UFRJ, School of Medicine, Universidade Federal do Rio de Janeiro, Brazil.
Int J Dermatol. 2002 Dec;41(12):923-5. doi: 10.1046/j.1365-4362.2002.01631_2.x.
Cardio-facio-cutaneous syndrome is a genetic disorder with a characteristic facies, abnormal skin and hair, mental retardation and congenital heart disease. It may be confused with Noonan's syndrome, which has a familial pattern and does not present hyperkeratotic skin lesions and abnormal hair, and there are few cases reported in the literature. We describe the first case of typical cardio-facio-cutaneous syndrome observed in Brazil.
心脏-颜面-皮肤综合征是一种遗传性疾病，具有特征性面容、皮肤和毛发异常、智力发育迟缓以及先天性心脏病。它可能与努南综合征相混淆，后者有家族性模式，且不存在角化过度性皮肤病变和毛发异常，文献中报道的病例较少。我们描述了在巴西观察到的首例典型心脏-颜面-皮肤综合征病例。
