title: Severe Smith-Lemli-Opitz syndrome with prolonged survival and lipid abnormalities.
abstract: We have studied a girl with multiple congenital anomalies, growth and mental deficiency, characteristic facial anomalies, cataracts, cerebellar atrophy, and severe hypocholesterolemia. Death occurred at age 7 years. After excluding several syndromes, i.e., peroxisomal disorders, mevalonic acidaemia, and Marinesco-Sjögren syndrome, it is concluded that this girl had severe Smith-Lemli-Opitz Syndrome (SLOS) with exceptionally long survival. This diagnosis was confirmed through assay of 7-dehydrocholesterol in cultured fibroblasts.
authors.affiliation: Centre de Génétique-ULB, Hôpital Erasme, Brussels, Belgium.
authors.forename: G
authors.initials: G
authors.lastname: Pierquin
authors.forename: P
authors.initials: P
authors.lastname: Peeters
authors.forename: F
authors.initials: F
authors.lastname: Roels
authors.forename: E
authors.initials: E
authors.lastname: Vamos
authors.forename: J M
authors.initials: JM
authors.lastname: Brucher
authors.forename: G S
authors.initials: GS
authors.lastname: Tint
authors.forename: A
authors.initials: A
authors.lastname: Honda
authors.forename: N
authors.initials: N
authors.lastname: Van Regemorter
mesh_terms: D000015:Abnormalities, Multiple / Q000097:blood / Q000235:genetics / Q000473:pathology*; D002784:Cholesterol / Q000378:metabolism*; D008076:Cholesterol, HDL / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood / Q000235:genetics / Q000473:pathology*; D008099:Liver / Q000473:pathology; D010641:Phenotype; D013577:Syndrome
chemical_list: D008076:Cholesterol, HDL; D008078:Cholesterol, LDL; D002784:Cholesterol