Cornelia de Lange Syndrome with NIPBL Gene Mutation: A Case Report
Journal of Korean Medical Science
;
: 1821-1823, 2010.
Artigo
em Inglês
| WPRIM
| ID: wpr-61705
ABSTRACT
Cornelia de Lange Syndrome (CdLS) is a multiple congenital anomaly characterized by distinctive facial features, upper limb malformations, growth and cognitive retardation. The diagnosis of the syndrome is based on the distinctive clinical features. The etiology is still not clear. Mutations in the sister chromatid cohesion factor genes NIPBL, SMC1A (also called SMC1L1) and SMC3 have been suggested as probable cause of this syndrome. We experienced a case of newborn with CdLS showing bushy eyebrows and synophrys, long curly eyelashes, long philtrum, downturned angles of the mouth and thin upper lips, cleft palate, micrognathia, excessive body hair, micromelia of both hands, flexion contracture of elbows and hypertonicity. We detected a NIPBL gene mutation in a present neonate with CdLS, the first report in Korea.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Proteínas
/
Tomografia Computadorizada por Raios X
/
Análise de Sequência de DNA
/
Códon de Terminação
/
Códon sem Sentido
/
Síndrome de Cornélia de Lange
/
Heterozigoto
Limite:
Humanos
/
Masculino
/
Recém-Nascido
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
2010
Tipo de documento:
Artigo
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