Smith–Lemli–Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations Journal Articles

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abstract

SummaryThe diagnostic biochemical hallmarks of Smith–Lemli–Opitz syndrome (SLOS) are elevated concentrations of the cholesterol precursors 7‐ and 8dehydrocholesterol (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.

authors

Haas, D
Armbrust, S
Haas, J‐P
Zschocke, J
Mühlmann, K
Fusch, Christoph
Neumann, LM

status

published

publication date

December 2005

has subject area

1103 Clinical Sciences (FoR)
Cell Culture Techniques (MeSH)
Cholestadienols (MeSH)
Cholesterol (MeSH)
Culture Media (MeSH)
DNA Mutational Analysis (MeSH)
Dehydrocholesterols (MeSH)
Esophageal Achalasia (MeSH)
Female (MeSH)
Fibroblasts (MeSH)
Gas Chromatography-Mass Spectrometry (MeSH)
Genetics & Heredity (Science Metrix)
Heterozygote (MeSH)
Humans (MeSH)
Infant (MeSH)
Lipids (MeSH)
Mutation (MeSH)
Oxidoreductases Acting on CH-CH Group Donors (MeSH)
Phenotype (MeSH)
Smith-Lemli-Opitz Syndrome (MeSH)
Sterols (MeSH)

published in

Journal of Inherited Metabolic Disease Journal