Homozygous N540K hypochondroplasia-First report: Radiological and clinical features

Authors
García de Rosa, María Laura; Fano, Virginia; Araoz, H. Verónica; Chertkoff, Lilien Patricia; Obregon, M. Gabriela
Publication Year
2014
Language
English
Format
article
Status
Published version
Description
We describe a 16-month-old male with N540K homozygous mutation in the FGFR3 gene who showed a more severe phenotype than hypochondroplasia (HCH). To our knowledge, a homozygous state for this mutation causing HCH has not been reported before. The clinical and radiological characteristics of our patient represent an intermediate condition between achondroplasia and achondroplasia/hypochondroplasia compound heterozygosity. This case represents a new expression of FGFR3 spectrum and it is of considerable importance for the genetic counseling in cases where both parents are affected with HCH.
Fil: García de Rosa, María Laura. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; Argentina
Fil: Fano, Virginia. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; Argentina
Fil: Araoz, H. Verónica. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; Argentina
Fil: Chertkoff, Lilien Patricia. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Obregon, M. Gabriela. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; Argentina
Subject
Achondroplasia
Homozygosity
Hypochondroplasia
Phenotypic overlap
Salud Ocupacional
Ciencias de la Salud
CIENCIAS MÉDICAS Y DE LA SALUD
Access level
Restricted access
License
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repository
CONICET Digital (CONICET)
Institution
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identifier
oai:ri.conicet.gov.ar:11336/35840