Limb body wall complex

Limb body wall complex (LBWC) is a rare fetal malformation of unknown origins.

Limb body wall complex
SpecialtyNeonatology

Traditionally diagnosis has been based on the Van Allen et al., criteria, i.e. the presence of two out of three of the following anomalies:[1]

  1. Exencephaly or encephalocele with facial clefts
  2. Thoraco and/or abdominoschisis and
  3. Limb defects.

LBWC occurs in approximately 0.32 in 100,000 births.[1]

At this time, there is no known cause of Limb Body Wall Complex. However, there have been tentative links made between a diagnosis of LBWC and cocaine use.[2] In addition, current research has shown that there may be a genetic cause for a small limited number of LBWC cases.[3]

Limb Body Wall Complex is a lethal birth defect. There are only anecdotal stories of survivors.[4]

References

  1. Chikkannaiah P, Dhumale H, Kangle R, Shekar R (January 2013). "Limb body wall complex: a rare anomaly". Journal of Laboratory Physicians. 5 (1): 65–7. doi:10.4103/0974-2727.115930. PMC 3758712. PMID 24014975.
  2. Viscarello RR, Ferguson DD, Nores J, Hobbins JC (September 1992). "Limb-body wall complex associated with cocaine abuse: further evidence of cocaine's teratogenicity". Obstetrics and Gynecology. 80 (3 Pt 2): 523–6. PMID 1386662.
  3. Davisson MT, Schmidt C, Akeson EC (1990). "Segmental trisomy of murine chromosome 16: a new model system for studying Down syndrome". Progress in Clinical and Biological Research. 360: 263–80. PMID 2147289.
  4. Gasnier F, Lerme F, Rousson R, Roussouly P, Vaganay E, Louisot P, Gateau-Roesch O (May 1991). "Investigation of glycosylation processes in mitochondria and microsomal membranes from human skeletal muscle". Clinica Chimica Acta; International Journal of Clinical Chemistry. 199 (1): 69–82. doi:10.1016/0009-8981(91)90010-A. PMID 1718634.
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