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  • Title: [Utility of fetal ultrasonography in the prenatal diagnosis of Smith-Lemli-Opitz syndrome].
    Author: Dubuisson J, Guibaud L, Combourieu D, Massardier J, Raudrant D.
    Journal: Gynecol Obstet Fertil; 2008 May; 36(5):525-8. PubMed ID: 18462978.
    Abstract:
    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.
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