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[Smith-Lemli-Opitz syndrome].

Annales de pathologie - 1 Sept 2005

Pelluard-Nehmé Fanny, Carles Dominique, Alberti Eve Marie, Saura Robert, Wong Christian, Wolf Claude

Abstract excerpt

SLO syndrome is an autosomal recessive condition with multiple malformations. This syndrome is ascribed to deficiency of 7 dehydrocholesterol reductase, an enzyme in the cholesterol biosynthetic pathway. The characteristics of this syndrome are facial anomalies, syndactyly of the second and third toe, postaxial polydactyly and genital anomalies with sexual ambiguity. We report a fetal case with intrauterine...

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PMID: 16327658
DOI: 10.1016/s0242-6498(05)80136-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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