Smith-Lemli-Opitz Syndrome

Authors

  • J Gordon Millichap Northwestern University Feinberg School of Medicine

DOI:

https://doi.org/10.15844/pedneurbriefs-10-9-11

Keywords:

Smith-Lemli-Opitz Syndrome, Ultraviolet Spectrophotometry, Chromotography/Mass Spectrometry Analysis

Abstract

Clinical features as specific indicators in the diagnosis of Smith-Lemli-Opitz syndrome (SLOS) and the reliability of ultraviolet spectrophotometry (UVS) as a biochemical screening test were examined by an Italian SLOS Collaborative Group of investigators.

Published

1996-09-01

Issue

Section

Mental Retardation Syndromes