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

The 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. [ABSTRACT FROM AUTHOR]