Evidence map›Paper›PMID 40192237›Full record

ArticleMolecular genetics & genomic medicine2025

A Retrospective Study of Infant and Maternal Risk Factors in LUMBAR Syndrome.

Denise W Metry, Dawn H Siegel, Kim M Keppler-Noreuil

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Article in Molecular genetics & genomic medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Denise W MetryDepartment of Dermatology, Driscoll Children's Hospital, Corpus Christi, Texas, USA.ORCID https://orcid.org/0000-0003-1991-1683
Dawn H SiegelDepartment of Dermatology, and by Courtesy, Pediatrics, School of Medicine, Stanford University, Palo Alto, California, USA.
Kim M Keppler-NoreuilDepartment of Pediatrics, Division of Genetics and Metabolism, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundLUMBAR syndrome is the association of segmental infantile hemangiomas that affect the Lower part of the body with Urogenital anomalies, hemangioma Ulceration, spinal cord Malformations, Bony deformities, Anorectal malformations, Arterial anomalies and/or Renal anomalies. The etiology is not known but is suspected to be multifactorial, involving genetic and environmental factors.

methodsWe retrospectively reviewed a large database of 109 published reports of LUMBAR syndrome to study potential associated clinical risk factors, the first such effort.

resultsLUMBAR is significantly more common in full-term, normal birth weight, singleton girls. We found no statistically significant differences in disease severity between affected girls and boys. There were no reports in twins or other multiple births, no reports of familial recurrence, and no repeated maternal illnesses, exposures, or other prenatal risk factors.

conclusionsProspective studies in LUMBAR syndrome are needed to further evaluate maternal risk factors for prenatal hypoxia, gene-environment interactions, and genetic susceptibility variants.

Indexed as

Abnormalities, MultipleHemangiomaUrogenital AbnormalitiesFemaleHumansInfantInfant, NewbornMalePregnancyRetrospective StudiesRisk FactorsdemographicsLUMBAR syndromeOEIS complexPHACE syndromerisk factorssegmental hemangiomaSepto‐optic dysplasia

Identifiers

PMID40192237
PMCPMC11973928

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