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Article

Severe Smith-Lemli-Opitz syndrome with prolonged survival and lipid abnormalities.

American journal of medical genetics - 10 Apr 1995

Pierquin G, Peeters P, Roels F, Vamos E, Brucher J M, Tint G S, Honda A, Van Regemorter N

Abstract excerpt

We have studied a girl with multiple congenital anomalies, growth and mental deficiency, characteristic facial anomalies, cataracts, cerebellar atrophy, and severe hypocholesterolemia. Death occurred at age 7 years. After excluding several syndromes, i.e., peroxisomal disorders, mevalonic acidaemia, and Marinesco-Sjögren syndrome, it is concluded that this girl had severe Smith-Lemli-Opitz Syndrome (SLOS) with...

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Source

Identifiers

PMID: 7778589
DOI: 10.1002/ajmg.1320560308

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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