Logo_Icesi
 

A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.

No hay miniatura disponible

Fecha

2014-06-13

Director de tesis/Asesor

Título de la revista

ISSN de la revista

Título del volumen

Publicador

BioMed Central Ltd.

Editor

Compartir

Documentos PDF

Resumen

Microcephalic osteodysplastic primordial dwarfism is a syndrome characterized by the presence of intrauterine growth restriction, post-natal growth deficiency and microcephaly. Microcephalic osteodysplastic primordial dwarfism type II is the most distinctive syndrome in this group of entities. Individuals affected by this disease present at an adult height of less than 100cm, a post-pubertal head circumference of 40cm or less, mild mental retardation, an outgoing personality and bone dysplasia. Case presentation. We report the first case of a five-year-old Colombian boy of mixed race ancestry (mestizo), with clinical features of microcephaly, prominent and narrow nose, arched palate, amelogenesis imperfecta, short stature, tall and narrow pelvis, disproportionate shortening of fore-arms and legs, and mild coxa vara. Analysis of the PCNT gene by sequencing showed the presence of a nucleotide change in exon 10, c. 1468C>T, evidencing a new mutation not reported in the literature for microcephalic osteodysplastic primordial dwarfism. Conclusion: The new mutation identified in this case could be associated with the severity of the phenotypic expression of the disease, resulting in the extreme short stature of the patient. Further studies are required to reach an explanation that can justify such findings, and it is vital to emphasize the importance of detection and follow-up by the epidemiological surveillance groups in birth defects and rare diseases. © 2014 Pachajoa et al.; licensee BioMed Central Ltd.

Abstract

Resumo

Descripción

Palabras clave

Ciencias socio biomédicas,

Keywords

Microcephalic osteodysplastic primordial dwarfism, Birth defects, Primordial dwarfism, Biomedical sciences

Palavras-chave

Citación

DOI

http://dx.doi.org/10.1186/1752-1947-8-191

Handle

ISBN

ISSN

1752-1947

OLIB

URL

YouTube

Creative Commons License
Excepto si se señala otra cosa, la licencia del ítem se describe como Atribución-NoComercial-SinDerivadas 4.0 Internacional (CC BY-NC-ND 4.0).