Association d'une aplasie cutanée congénitale et d'une coarctation de l'aorte: association fortuite ?

Cardiovascular malformations in Adams–Oliver syndrome

“…On one hand, literature review shows intra‐familial variability, including co‐segregation of classic and partial AOS in a few families [Santos et al, ; Lin et al, ]. Notably, some members displayed full blown features of AOS, while others had CVMs and aplasia cutis without limb defects [Bruel et al, ; Heras Mulero et al, ; Digilio et al, ]. On the other hand, concordant partial AOS can also segregate in the same family, as illustrated by a mother–son pair sharing aplasia cutis congenital and aortic coarctation with normal limbs [Dallapiccola et al, ; Digilio et al, ].…”

Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: A possible link to the Adams–Oliver syndrome

“…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.…”

“… References: 1, Deeken and Caplan 1970]; 2, Dubosson and Schneider 1978]; 3, Dallapiccola et al 1992]; 4, Bruel et al 1999]; 5, Heras Mulero et al 2007]; 6, Zapata et al 1995]; 7, Lin et al 1998]; 8, Verdyck et al 2003]. …”