1.
Pediatr Dermatol
; 34(5): e249-e253, 2017 Sep.
Artículo
en Inglés
| MEDLINE
| ID: mdl-28884918
RESUMEN
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.