European Journal of Pediatrics

, Volume 155, Issue 8, pp 656–659

Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes

  • V. Cormier-Daire
  • C. Wolf
  • A. Munnich
  • M. Le Merrer
  • A. Nivelon
  • D. Bonneau
  • H. Journel
  • F. Fellmann
  • F. Chevy
  • C. Roux
Metabolic Diseases

DOI: 10.1007/BF01957147

Cite this article as:
Cormier-Daire, V., Wolf, C., Munnich, A. et al. Eur J Pediatr (1996) 155: 656. doi:10.1007/BF01957147

Abstract

The Smith-Lemli-Opitz syndrome (SLO) is an autosomal recessive disorder characterized by dysmorphic facial features with abnormal limbs and genitalia. Two forms have been recognized based on clinical course and severity: the classical SLO (type I) and the lethal acrodysgenital syndrome (type II). Type I SLO has been recently ascribed to a defect in cholesterol synthesis. Taking advantage of a series of seven patients including five type I and two type II SLO, we describe micrognathia, severe microcephaly, major ante and post natal growth retardation and feeding difficulties as consistent features in the disease. In addition, we give support to the presence of abnormal cholesterol levels in the lethal acrodysgenital syndrome but find no correlation between plasma sterol levels and the clinical severity of the disease.

Key words

Smith-Lemli-Opitz Lethal acrodysgenital syndrome Cholesterol metabolism 7-Dehydrocholesterol 

Abbreviations

DHC

Dehydrocholesterol

SLO

Smith-Lemli-Opitz Syndrome

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Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  • V. Cormier-Daire
    • 1
  • C. Wolf
    • 2
  • A. Munnich
    • 1
  • M. Le Merrer
    • 1
  • A. Nivelon
    • 3
  • D. Bonneau
    • 4
  • H. Journel
    • 5
  • F. Fellmann
    • 6
  • F. Chevy
    • 2
  • C. Roux
    • 2
  1. 1.Service de Génétique et Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393Hôpital des Enfants-MaladesParis Cedex 15France
  2. 2.Laboratoire de Biologie et d'EmbryologieHôpital Saint-AntoineParisFrance
  3. 3.Service de PédiatrieHôpital Le BocageDijonFrance
  4. 4.Unité de GénétiqueCH de la MiletriePoitiersFrance
  5. 5.Unité de GénétiqueCH ChubertVannesFrance
  6. 6.Unité de GénétiqueHôpital Saint-JacquesBesançonFrance

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