[Utility of fetal ultrasonography in the prenatal diagnosis of Smith-Lemli-Opitz syndrome].
Smith-Lemli-Opitz syndrome is a rare autosomal recessive genetic disorder which diagnosis is usually made postnatally. We describe a case of a prenatal diagnosis based only on specific ultrasound findings: intra-uterine growth retardation with facial dysmorphia, polydactyly and genital anomalies. We suggest giving more consideration to the ultrasound scanning for the diagnosis of the syndrome in the prenatal period.
Dubuisson
J
J
Service de gynécologie-obstétrique, Hôtel-Dieu, 61, quai Jules-Courmont, 69288 Lyon cedex 02, France. neajdubuisson@yahoo.fr
Guibaud
L
L
Combourieu
D
D
Massardier
J
J
Raudrant
D
D
D000025:Abortion, Eugenic; D000328:Adult; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging* / Q000235:genetics*; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging; D006801:Humans; D011247:Pregnancy; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis / Q000000981:diagnostic imaging*; D016216:Ultrasonography, Prenatal / Q000379:methods*