Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: a possible link to the Adams-Oliver syndrome.

摘要

There are numerous reported patients with aplasia cutis congenita (ACC) of the scalp and congenital heart defect (CHD) including a mother and son sharing ACC in the midline of the scalp vertex and coarctation of the aorta [Dallapiccola et al., 1992]. The boy also had bicuspid aortic valve (BAV), and parachute non-stenotic mitral valve, while the mother had BAV and duplication of the right femoral artery. Previous studies have shown the possible association between ACC of the scalp and patent -ductus arteriosus [Deeken and Caplan, 1970], ventricular septal defect [Dubosson and Schneider, 1978], and aortic coarctation [Bruel et al., 1999; Heras Mulero et al., 2007] (Table I). In the article by Bruel et al. [1999], two paternal relatives of the proband displayed left-sided obstructive CHDs, including aortic coarctation and hypoplastic left ventricle, in the absence of ACC.