How is Smith-Lemli-Opitz syndrome (SLOS) type II treated?

Updated: Jan 27, 2021
  • Author: Robert D Steiner, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Answer

The condition of patients with the most severe type of Smith-Lemli-Opitz syndrome (SLOS), sometimes referred to as Smith-Lemli-Opitz syndrome type II, is characterized by very low plasma cholesterol levels (usually, approximately < 20 mg/dL [as measured by gas chromatography methods to separate sterols]), obtundation or coma, respiratory failure necessitating mechanical ventilation, and multiple malformations manifesting at birth. This condition is almost invariably lethal. The clinician should strongly consider offering palliative care only.


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