[Smith-Lemli-Opitz syndrome].
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.
Pelluard-Nehmé
Fanny
F
Service d'Anatomie Pathologique, Groupe Hospitalier Pellegrin, Bordeaux.
Carles
Dominique
D
Alberti
Eve Marie
EM
Saura
Robert
R
Wong
Christian
C
Wolf
Claude
C
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*