Limb body wall complex

Limb body wall complex

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

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. 1 2 Chikkannaiah, Panduranga; Dhumale, Hema; Kangle, Ranjit; Shekar, Rosini (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. "Limb-body wall complex associated with cocaine abuse: further evidence of cocaine's teratogenicity". Obstet Gynecol. 80: 523–6. PMID 1386662.
  3. ↑ Davisson MT, Schmidt C, Akeson EC. "Segmental trisomy of murine chromosome 16: a new model system for studying Down syndrome". Prog Clin Biol Res. 360: 263–80. PMID 2147289.
  4. ↑ Gasnier F, Lerme F, Rousson R, Roussouly P, Vaganay E, Louisot P, Gateau-Roesch O. "Investigation of glycosylation processes in mitochondria and microsomal membranes from human skeletal muscle". Clin Chim Acta. 199: 69–82. PMID 1718634.
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