Denise W Metry, Dawn H Siegel, Kim M Keppler-Noreuil
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A Retrospective Study of Infant and Maternal Risk Factors in 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.
期刊介绍：
Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care.
Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.
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