How is the diagnosis of Smith-Lemli-Opitz syndrome (SLOS) confirmed in atypical cases?

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

Cultured fibroblasts can be used for enzymatic testing to provide diagnostic confirmation in atypical cases. Skin biopsy and enzyme analysis are not normally required when clinical features of Smith-Lemli-Opitz syndrome are present in a patient with elevated levels of 7DHC in the blood.


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