Limb body wall complex
| Limb body wall complex | |
|---|---|
| Specialty | Neonatology |
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]
- Exencephaly or encephalocele with facial clefts
- Thoraco and/or abdominoschisis and
- 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
- ^ a b 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.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - ^ 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.
- ^ 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.
- ^ 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.