Smith–Lemli–Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations Academic Article uri icon

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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.

authors

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

publication date

  • December 2005

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