How is Smith-Lemli-Opitz syndrome (SLOS) diagnosed?

Updated: Jan 27, 2021
  • Author: Robert D Steiner, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Fetal ultrasonography may reveal anomalies suggestive of Smith-Lemli-Opitz syndrome. Confirmatory prenatal diagnostic testing is currently available by genetic mutation analysis.

Postnatally, the syndrome is usually suspected clinically, but biochemical studies (and/or genetic studies) are necessary for diagnosis. Plasma total cholesterol and/or low-density lipoprotein (LDL) cholesterol levels may be low but are not universally low. Measurement of plasma sterols, including, at a minimum, cholesterol and 7DHC, is the diagnostic test for Smith-Lemli-Opitz syndrome.

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