Adams–Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK 6 DOCK DOCK 6 Mutations

摘要

Abstract Adams–Oliver syndrome ( AOS ) is a multiple congenital anomaly syndrome characterized by aplasia cutis congenita ( ACC ) and transverse terminal limb defects ( TTLD s). We present a case of type 2 autosomal recessive AOS associated with heterozygous mutations in the?dedicator of cytokinesis 6 ( DOCK6 ) gene, with characteristic findings?of ACC , TTLD , intracerebral periventricular calcifications, and polymicrogyria.