Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations.
J Inherit Metab Dis
; 28(6): 1191-6, 2005.
Article
em En
| MEDLINE
| ID: mdl-16435228
ABSTRACT
The diagnostic biochemical hallmarks of Smith-Lemli-Opitz syndrome (SLOS) are elevated concentrations of the cholesterol precursors 7- and 8-dehydrocholesterol (7- and 8-DHC). We describe a patient with classical SLOS phenotype and oesophageal achalasia, which has not been reported in SLOS patients before. Plasma 7-DHC and 8-DHC were only marginally elevated. The diagnosis was confirmed by sterol analysis in cultured skin fibroblasts and mutation analysis.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Esteróis
/
Acalasia Esofágica
/
Síndrome de Smith-Lemli-Opitz
/
Oxirredutases atuantes sobre Doadores de Grupo CH-CH
/
Mutação
Limite:
Female
/
Humans
/
Infant
Idioma:
En
Revista:
J Inherit Metab Dis
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
Alemanha