title: [Smith-Lemli-Opitz syndrome].
abstract: SLO syndrome is an autosomal recessive condition with multiple malformations. This syndrome is ascribed to deficiency of 7 dehydrocholesterol reductase, an enzyme in the cholesterol biosynthetic pathway. The characteristics of this syndrome are facial anomalies, syndactyly of the second and third toe, postaxial polydactyly and genital anomalies with sexual ambiguity. We report a fetal case with intrauterine growth retardation, genital anomalies, multiple malformations with cardiac anomalies, renal aplasia and facial anomalies detected by prenatal ultrasound. Medical abortion was induced at 24 weeks gestation. The diagnosis was considered after complete pathologic examination and biochemical analysis.
authors.affiliation: Service d'Anatomie Pathologique, Groupe Hospitalier Pellegrin, Bordeaux.
authors.forename: Fanny
authors.initials: F
authors.lastname: Pelluard-Nehmé
authors.forename: Dominique
authors.initials: D
authors.lastname: Carles
authors.forename: Eve Marie
authors.initials: EM
authors.lastname: Alberti
authors.forename: Robert
authors.initials: R
authors.lastname: Saura
authors.forename: Christian
authors.initials: C
authors.lastname: Wong
authors.forename: Claude
authors.initials: C
authors.lastname: Wolf
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D005145:Face / Q000002:abnormalities; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D011247:Pregnancy; D019849:Sex Determination Processes; D019082:Smith-Lemli-Opitz Syndrome / Q000196:embryology / Q000473:pathology*