Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination

Frontiers in Pediatrics

Deepak Sharma¹ 

关键词: ectrodactyly ectodermal dysplasia–;    cleft;    cleft hand or lobster claw hand/foot;    Tetralogy of Fallot;    TP63 gene;    R280C mutation;   

DOI  :  10.3389/fped.2015.00051

学科分类：儿科学

来源: Frontiers

【 摘 要 】

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1 in 90,000 in population. It is known with various names including split hand–split foot–ectodermal dysplasia–cleft syndrome or split hand, cleft hand, or lobster claw hand/foot. We report first case of EEC with associated heart disease (Tetralogy of Fallot) who was diagnosed as EEC on the basis of clinical features and EEC was confirmed with genetic analysis.

【 授权许可】

CC BY