Adams–Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations

Abstract

Adams–Oliver syndrome (AOS) is a multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLDs). 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.

from #ORL-AlexandrosSfakianakis via ola Kala on Inoreader http://ift.tt/2gNlnD2