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

作者：Jones Krystal M^*; Silfvast Kaiser Annika; Leake David R; Diaz Lucia Z; Levy Moise L

来源：Pediatric Dermatology, 2017, 34(5): E249-E253.

DOI：10.1111/pde.13239

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.

• 出版日期2017-10