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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Syndrome de Smith-Lemli-Opitz

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  • Fanny Pelluard-Nehmé
  • Dominique Carles
  • Eve Marie Alberti
  • Robert Saura
  • Christian Wong
  • Claude Wolf
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SLO syndrome is an autosomal recessive condition with multiple malformations. This syndrome is ascribed to deficiency of 7 dehydrocholesterol reductase, an enzyme in the cholesterol biosynthetic pathway. The characteristics of this syndrome are facial anomalies, syndactyly of the second and third toe, postaxial polydactyly and genital anomalies with sexual ambiguity. We report a fetal case with intrauterine growth retardation, genital anomalies, multiple malformations with cardiac anomalies, renal aplasia and facial anomalies detected by prenatal ultrasound. Medical abortion was induced at 24 weeks gestation. The diagnosis was considered after complete pathologic examination and biochemical analysis.
Translated title of the contributionSmith-Lemli-Opitz syndrome
Original languageFrench
JournalAnnales de Pathologie
Volume25
Issue number4
Pages (from-to)318-21
Number of pages4
ISSN0242-6498
Publication statusPublished - 2005

ID: 34801938