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A Retrospective Study of Infant and Maternal Risk Factors in LUMBAR Syndrome
Denise W Metry1, Dawn H Siegel2, Kim M Keppler-Noreuil3
1Department of Dermatology, Driscoll Children's Hospital, Corpus Christi, Texas, USA.
Insights
LUMBAR syndrome, a condition affecting the lower body, is more common in singleton girls. This study analyzed 109 reports, finding no significant sex-based differences in disease severity.
Area of Science:
- Genetics and Developmental Biology
- Pediatric Medicine
- Medical Research
Background:
- LUMBAR syndrome is a complex condition characterized by segmental infantile hemangiomas of the lower body, associated with multiple anomalies.
- These anomalies include urogenital, ulceration, spinal, bony, anorectal, arterial, and renal abnormalities.
- The exact etiology remains unknown, with suspected multifactorial genetic and environmental influences.
Purpose of the Study:
- To investigate potential associated clinical risk factors in LUMBAR syndrome.
- To conduct the first comprehensive analysis of risk factors based on published reports.
Main Methods:
- Retrospective review of a large database comprising 109 published case reports of LUMBAR syndrome.
- Analysis focused on identifying and evaluating associated clinical risk factors.
Main Results:
- LUMBAR syndrome demonstrates a significantly higher prevalence in full-term, normal birth weight, singleton female infants.
- No statistically significant differences in disease severity were observed between affected males and females.
- The study found no instances of twin or multiple births, familial recurrence, or repeated maternal risk factors (illnesses, exposures) in the reviewed cases.
Conclusions:
- Further prospective research is essential to thoroughly investigate maternal risk factors, including prenatal hypoxia.
- Future studies should explore gene-environment interactions and identify genetic susceptibility variants contributing to LUMBAR syndrome.
- The findings highlight the need for continued investigation into the complex etiology of LUMBAR syndrome.
Background:
LUMBAR 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.
Methods:
We retrospectively reviewed a large database of 109 published reports of LUMBAR syndrome to study potential associated clinical risk factors, the first such effort.
Results:
LUMBAR 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.
Conclusions:
Prospective studies in LUMBAR syndrome are needed to further evaluate maternal risk factors for prenatal hypoxia, gene-environment interactions, and genetic susceptibility variants.
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