Ana Isabel Sánchez and Jorge Armando Rojas

Instituto de Gen´etica Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogot´a, Colombia

Correspondence should be addressed to Ana Isabel S´anchez; sa-ana@javeriana.edu.co

Received 23 May 2017; Accepted 6 August 2017; Published 29 August 2017

Academic Editor: Philip D. Cotter

Copyright © 2017 Ana Isabel S´anchez and Jorge Armando Rojas. This is an open access article distributed under the Creative

Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the

original work is properly cited.

Nicolaides-Baraitser syndrome (NCBRS) is a rare and well-recognized entity that was first described in 1993, with a prevalence that

is currently not known. It is recognized as a distinctive entity, with some variability in its signs and symptoms. The most important

characteristics include intellectual disability, peculiar facial features including sparse scalp hair, coarse facial features, low frontal

hairline, and microcephaly, and seizures.Additional features may include epicanthic folds, thin upper lip vermilion with thick lower

lip vermilion, skeletal abnormalities, and severe language impairment.The disorder is inherited in an autosomal dominantmanner

caused by de novo mutations in the SMARCA2 gene, with most being missense mutations. We report a young adult patient with

NCBRS and, to our knowledge, the first case report of the syndrome in Latin America with a confirmed molecular diagnosis and

a mild-to-moderate phenotype.

Descargar PDF