[Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism].
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.
Aalfs
C M
CM
Instituut voor Antropogenetica. afd. Klinische Genetica, Amsterdam.
Hennekam
R C
RC
Wanders
R J
RJ
Jira
P E
PE
Pilon
J W
JW
Wijburg
F A
FA
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*
D003684:Dehydrocholesterols; D002784:Cholesterol; C016705:7-dehydrocholesterol; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase
Het Smith-Lemli-Opitz-syndroom; een bijzonder defect in het cholesterolmetabolisme.