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Case Reports
. 2005;28(6):1191-6.
doi: 10.1007/s10545-005-0168-9.

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

D Haas  1 , S Armbrust, J-P Haas, J Zschocke, K Mühlmann, C Fusch, L M Neumann
Affiliations
Case Reports

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

D Haas et al. J Inherit Metab Dis. 2005.

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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