Your browser doesn't support javascript.
loading
Short Syndrome-An Expanding Phenotype.
Indian Pediatr ; 2013 April; 50(4): 414-416
Artigo em Inglês | IMSEAR | ID: sea-169774
ABSTRACT
The phenotypic description of SHORT syndrome (OMIM- 269880) is expanding since its initial description in 1975. There have been 26 case reports till date but the genetic locus of this syndrome is elusive. Involvement of PITX2 gene initially envisaged is probably is not the only gene involved but has an important role to play in ocular development. Our case did not demonstrate mutation in PITX2 gene. Here, we report a case of SHORT syndrome with two new unreported features – deviated nasal septum and cryptorchidism and stress on lipodystrophy, a cardinal feature but not a part of the pneumonic SHORT.

Texto completo: DisponíveL Índice: IMSEAR (Sudeste Asiático) Idioma: Inglês Revista: Indian Pediatr Ano de publicação: 2013 Tipo de documento: Artigo

Similares

MEDLINE

...
LILACS

LIS

Texto completo: DisponíveL Índice: IMSEAR (Sudeste Asiático) Idioma: Inglês Revista: Indian Pediatr Ano de publicação: 2013 Tipo de documento: Artigo