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; firstname.lastname@example.org
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.