Journal
PEDIATRIC DERMATOLOGY
Volume 34, Issue 5, Pages E249-E253Publisher
WILEY
DOI: 10.1111/pde.13239
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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.
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