Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome.
Clin Dysmorphol
; 15(2): 111-3, 2006 Apr.
Article
em En
| MEDLINE
| ID: mdl-16531739
ABSTRACT
Marshall-Smith syndrome is characterized by overgrowth, advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features and variable mental retardation. Respiratory problems are a major cause of early morbidity and mortality. Ocular features have been mentioned in previous reports, but details are limited. This report describes the clinical features of a child with typical features of Marshall-Smith syndrome with emphasis on visual function. She had megalocornea, hypoplastic optic discs and was partially sighted. Aggressive management of the early respiratory and feeding problems improved survival in this child.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Oftalmopatias
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Female
/
Humans
/
Infant
Idioma:
En
Revista:
Clin Dysmorphol
Assunto da revista:
TERATOLOGIA
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Reino Unido