[Utility of fetal ultrasonography in the prenatal diagnosis of Smith-Lemli-Opitz syndrome]

Gynecol Obstet Fertil. 2008 May;36(5):525-8. doi: 10.1016/j.gyobfe.2008.01.014. Epub 2008 May 6.
[Article in French]

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.

Publication types

  • Case Reports

MeSH terms

  • Abortion, Eugenic*
  • Adult
  • Congenital Abnormalities / diagnostic imaging*
  • Congenital Abnormalities / genetics*
  • Female
  • Fetal Growth Retardation / diagnostic imaging
  • Humans
  • Pregnancy
  • Smith-Lemli-Opitz Syndrome / diagnosis
  • Smith-Lemli-Opitz Syndrome / diagnostic imaging*
  • Ultrasonography, Prenatal / methods*