GENETIC COUNSELING, vol.22, no.1, pp.55-61, 2011 (SCI-Expanded)
Autosomal dominant aplasia cutis in three generations and one case with preaxial polydactyly in the last generation: Aplasia Culls Congenita (ACC), characterized by the focal absence of the skin and skin adnexia resulting from a developmental failure, may occur as part of Adams- Oliver Syndrome (AOS) which can be defined as a congenital inherited disorder, consisting of terminal transverse limb defects and vascular anomalies in addition to ACC. Coexistence of isolated preaxial polydactyly without terminal extremity defect and ACC is extremely rare. Furthermore, ACC and preaxial polydactyly has not been reported previously. Here we report a three-generation family with autosomal dominant aplasia cutis congenita and preaxial polydactyly in the last generation and discuss whether it is a coincidence or not.