Williams syndrome and the elastin gene in Thai patients.
Artigo
em Inglês
| IMSEAR
| ID: sea-44067
ABSTRACT
Williams syndrome (WS) has long been known as a complex disorder of dysmorphic facial features, described as elfin face, mental retardation or learning disability, loquacious personality, and supravalvular aortic stenosis. The etiology is now known to be due to deletion of the elastin gene (ELN) on long arm of chromosome 7. Thai patients were previously reported by clinical diagnosis. This study reports the first two cases of WS with ELN deletion diagnosed by fluorescent in situ hybridization (FISH) technique. Clinically, hyperacusis is a common finding in WS associated with otitis media. Neither of the patients had hyperacusis, but one of them had bilateral sensorineural hearing loss, which to our knowledge, has never been reported.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Tailândia
/
Feminino
/
Humanos
/
Elastina
/
Hibridização in Situ Fluorescente
/
Deleção de Genes
/
Síndrome de Williams
/
Perda Auditiva Neurossensorial
/
Lactente
País/Região como assunto:
Ásia
Idioma:
Inglês
Ano de publicação:
1999
Tipo de documento:
Artigo
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