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Limb-body wall complex: a case series
B Luehr1, J Lipsett, J A Quinlivan
1Department of Obstetrics and Gynaecology, Flinders Medical Centre, Adelaide, Australia.
Summary
Limb-body wall complex (LBWC) is a rare birth defect. While often sporadic, some cases may indicate a genetic predisposition, warranting caution with environmental factors.
Area of Science:
- Medical Genetics
- Developmental Biology
- Teratology
Background:
- Limb-body wall complex (LBWC) is a rare, severe congenital anomaly with uncertain origins.
- Historically considered sporadic with low recurrence risk, recent evidence suggests potential genetic and environmental influences.
Observation:
- A 5-year audit identified 11 cases of LBWC, yielding an incidence of 0.33 per 1000 live births.
- Maternal history revealed significant associations with cigarette (50%), alcohol (50%), and marijuana (30%) use.
- Forty percent of affected women had a prior infant with a congenital anomaly, and one case involved consecutive affected male infants.
Findings:
- The study highlights that while LBWC is predominantly sporadic, a subset of cases may be linked to an underlying genetic predisposition.
- Environmental factors, including substance use, are noted in a substantial proportion of affected pregnancies.
Implications:
- Genetic counseling and advanced prenatal ultrasound screening in tertiary centers are recommended for subsequent pregnancies.
- Advising expectant mothers to avoid alcohol, cigarettes, and other drugs is crucial for mitigating risks associated with LBWC.

