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Article

Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.

American journal of medical genetics. Part A - 1 May 2012

Nowaczyk Małgorzata J M, Tan Mattea, Hamid Jemila S, Allanson Judith E

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLOS), is an autosomal recessive condition caused by cholesterol synthesis deficiency which results in a wide phenotypic spectrum which includes multiple malformations, distinctive facial appearance, and intellectual disability. This anthropometric and observational study was carried out to define the key facial characteristics of individuals with SLOS and to evaluate evolution of the...

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PMID: 22438180
DOI: 10.1002/ajmg.a.35285

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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