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

Krystal M Jones; Annika Silfvast-Kaiser; David R Leake; Lucia Z Diaz; Moise L Levy

doi:10.1111/pde.13239

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

Pediatr Dermatol. 2017 Sep;34(5):e249-e253. doi: 10.1111/pde.13239.

Authors

Krystal M Jones¹, Annika Silfvast-Kaiser², David R Leake¹, Lucia Z Diaz¹, Moise L Levy¹

Affiliations

¹ Dell Medical School, Dell Children's Medical Center, University of Texas at Austin, Austin, Texas.
² College of Medicine, Texas A&M University, Bryan, Texas.

PMID: 28884918
DOI: 10.1111/pde.13239

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.

Publication types

Case Reports

MeSH terms

Ectodermal Dysplasia / diagnosis
Ectodermal Dysplasia / genetics*
Guanine Nucleotide Exchange Factors / genetics*
Heterozygote
Humans
Infant, Newborn
Limb Deformities, Congenital / diagnosis
Limb Deformities, Congenital / genetics*
Magnetic Resonance Imaging
Male
Mutation
Scalp Dermatoses / congenital*
Scalp Dermatoses / diagnosis
Scalp Dermatoses / genetics

Substances

DOCK6 protein, human
Guanine Nucleotide Exchange Factors

Supplementary concepts

Adams Oliver syndrome