Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 acidaem...

Topics

Abnormalities, Multiple
Cholesterol
Cholesterol, HDL
Cholesterol, LDL
Fatal Outcome
Female
Humans
Infant, Newborn
Lipid Metabolism, Inborn Errors
Liver
Phenotype
Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 7778589
DOI: 10.1002/ajmg.1320560308

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7778589-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Severe Smith-Lemli-Opitz syndrome with prolonged survival and lipid abnormalities.PMID 7778589Read ↗

Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings.Semantic proximity Read ↗

Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.Semantic proximity Read ↗

Unusual case of Smith-Lemli-Opitz syndrome "type II".Semantic proximity Read ↗

[Inborn error of cholesterol biosynthesis: Smith-Lemli-Opitz syndrome].Semantic proximity Read ↗

Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz SyndromeSemantic proximity Read ↗

Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature.Semantic proximity Read ↗

Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages: clinical and biochemical studies.Semantic proximity Read ↗

Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.Semantic proximity Read ↗

Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome.Semantic proximity Read ↗

Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.Semantic proximity Read ↗

Recent insights into the Smith-Lemli-Opitz syndrome.Semantic proximity Read ↗

Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.