Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes
Cormier-Daire, V. ; Wolf, C. ; Munnich, A. ; Merrer, M. ; Nivelon, A. ; Bonneau, D. ; Journel, H. ; Fellmann, F. ; Chevy, F. ; Roux, C.
Springer
Published 1996
Springer
Published 1996
| ISSN: |
1432-1076
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|---|---|
| Keywords: |
Smith-Lemli-Opitz ; Lethal acrodysgenital syndrome ; Cholesterol metabolism ; 7-Dehydrocholesterol
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| Source: |
Springer Online Journal Archives 1860-2000
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| Topics: |
Medicine
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| Notes: |
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.
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| Type of Medium: |
Electronic Resource
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| URL: |