Phenotypic diversity in the Smith-Lemli-Opitz syndrome.

Article

Phenotypic diversity in the Smith-Lemli-Opitz syndrome.

Clinical dysmorphology - 1 Jan 1997

Seller M J, Flinter F A, Docherty Z, Fagg N, Newbould M

Abstract excerpt

The phenotype of four cases of Smith-Lemli-Opitz syndrome (SLO) with proven defects in cholesterol biosynthesis are compared, and shown to be markedly disparate even between sibs, and demonstrate the dilemma for the clinician. The advent of a biochemical test for SLO has been enormously valuable...

Topics

Abnormalities, Multiple
Female
Humans
Infant, Newborn
Phenotype
Smith-Lemli-Opitz Syndrome

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