title: [Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism].
abstract: In a male neonate dysmaturity, microcephalia, a high nasal bridge, a long philtrum, broad dental ridges, schisis of the palatum molle, retrognathia, a small penis with a chorda, a small scrotum, bilateral inguinal hernia and bilateral syndactyly of the second and third toes were observed. The presence of the Smith-Lemli-Opitz (SLO) syndrome was suspected. By gas chromatography a severely decreased plasma cholesterol level (0.27 mmol/l) was found and an increased plasma 7-dehydrocholesterol level (0.24 mmol/l). The SLO syndrome is caused by a block in the cholesterol biosynthesis due to the autosomal recessive deficiency of 7-dehydrocholesterol reductase. The patient's condition improved with use of a cholesterol-enriched diet.
authors.affiliation: Instituut voor Antropogenetica. afd. Klinische Genetica, Amsterdam.
authors.forename: C M
authors.initials: CM
authors.lastname: Aalfs
authors.forename: R C
authors.initials: RC
authors.lastname: Hennekam
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: P E
authors.initials: PE
authors.lastname: Jira
authors.forename: J W
authors.initials: JW
authors.lastname: Pilon
authors.forename: F A
authors.initials: FA
authors.lastname: Wijburg
mesh_terms: D000015:Abnormalities, Multiple; D002784:Cholesterol / Q000096:biosynthesis / Q000097:blood*; D002849:Chromatography, Gas; D003684:Dehydrocholesterols / Q000097:blood; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010088:Oxidoreductases / Q000235:genetics; D044925:Oxidoreductases Acting on CH-CH Group Donors; D019082:Smith-Lemli-Opitz Syndrome / Q000097:blood*
chemical_list: D003684:Dehydrocholesterols; D002784:Cholesterol; C016705:7-dehydrocholesterol; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase
vernacular_title: Het Smith-Lemli-Opitz-syndroom; een bijzonder defect in het cholesterolmetabolisme.