Limb-body wall complex

Limb-body wall complex (LBWC) is a condition characterized by multiple, severe congenital abnormalities in a fetus. It typically results in openings in the anterior body wall (chest and belly) and defects of the limbs (arms and legs). Other features of LBWC may include facial clefts; a short or missing umbilical cord; scoliosis; neural tube defects; and abnormalities of the urogenital organs (i.e. kidney, bladder, and/or genitals). The exact cause of LBWC is unclear. Unfortunately, there is no cure for LBWC and it is considered to be incompatible with life (fatal).^[1][2][3] The majority of affected pregnancies end in fetal demise.^[4]

The exact underlying cause of limb-body wall complex (LBWC) is currently unknown. However, scientist have proposed the following three theories as possible explanations for the condition:^[1][2]

(1) Amniotic bands - LBWC occurs when the amniotic sac (the fluid-filled sac that surrounds the baby) breaks early, leading to the development of amniotic bands. These bands can cause amputations and constrictions in the developing baby. The timing of this event may explain the varying severity from case to case.

(2) Vascular "disruption" - LBWC is caused by a disruption of blood flow in the developing baby. This is a common explanation for certain types of birth defects, especially limb abnormalities.

(3) Abnormal embryonic folding - Early in development, the embryo folds to ensure the proper development and placement of different body parts and organs. If this event doesn't take place or if the embryo folds abnormally, it could lead to the various signs and symptoms associated with LBWC.

The majority of cases are considered to be sporadic, regardless of underlying cause and recurrence risk is considered to be low; however, there is at least one case reported in the medical literature of a woman having two different pregnancies with LBWC.^[5]

Recently, some authors have proposed a potential genetic origin of LBWC involving mutations in genes related to laterality (left or right side of the body) and caudal development (the lower half of the body). More genetic studies on infants with LBWC are needed to prove this connection.^[6]

Limb-body wall complex is generally considered to be incompatible with life (fatal).^[1] However, there are at least two reported cases of people with this condition who have survived. Click on the links below to read a summary of each article.

Gazolla AC, da Cunha AC, Telles JA, Betat Rda S, Romano MA, Marshall I, Gobatto AM, de H Bicca AM, Arcolini CP, Dal Pai TK, Vieira LR, Targa LV, Betineli I, Zen PR, Rosa RF. Limb-body wall defect: experience of a reference service of fetal medicine from Southern Brazil. Birth Defects Res A Clin Mol Teratol. 2014 Oct;100(10):739-49.
http://www.ncbi.nlm.nih.gov/pubmed/24975578

Kanamori Y, Hashizume K, Sugiyama M, Tomonaga T, Takayasu H, Ishimaru T, Terawaki K, Suzuki K, Goishi K, Takamizawa M. Long-term survival of a baby with body stalk anomaly: report of a case. Surg Today. 2007;37(1):30-3.
http://www.ncbi.nlm.nih.gov/pubmed/17186342

You can find relevant articles on LBWC through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site. Using "limb body wall complex" as your search term should help you locate articles. Use the advanced search feature to narrow your search results.

The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.