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Possible Genetic Origin of Limb-Body Wall Complex
David C Gajzer1, Alicia Cristina Hirzel, Gaurav Saigal
1Department of Pathology, University of Miami, Holtz Children's Hospital , Miami, Florida , USA.
Fetal and Pediatric Pathology
|June 26, 2015
Summary
Limb body wall complex (LBWC) involves severe congenital defects. This study suggests abnormal genes related to laterality and caudal development may cause LBWC, particularly when associated with absent gallbladder and polysplenia.
Area of Science:
- Developmental Biology
- Genetics
- Teratology
Background:
- Limb body wall complex (LBWC) is a rare and severe congenital disorder with multiple malformations.
- The exact etiology of LBWC remains unclear, with no established consensus.
- Some cases present with facial clefts, complicating definitive diagnosis.
Observation:
- This study describes four patients diagnosed with LBWC and additional malformations.
- One patient exhibited polysplenia, a condition involving abnormal spleen development.
- Previous reports have linked LBWC to absent gallbladder.
Findings:
- Absent gallbladder and polysplenia are conditions associated with laterality genes.
- Genes implicated include HOX, bFGF, transforming growth factor beta/activins/BMP4, WNT 1-8, and SHH.
- The observed co-occurrence suggests a potential genetic link.
Implications:
- The findings suggest a potential role for abnormal genes in laterality and caudal development in LBWC.
- This could lead to a better understanding of LBWC pathogenesis.
- Further research into these genetic pathways may offer new diagnostic or therapeutic avenues.
Keywords:
absent gallbladderbody stalk anomalygeneslimb body wall complex (lbwc)polyspleniashort umbilical cordMore Related Videos
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