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Clinical and epidemiological characteristics of infants with body wall complex with and without limb deficiency
1ECEMC and Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Insights
The study proposes a new definition for Body Wall Complex (BWC), encompassing abdominal wall defects with variable anomalies, including those without limb deficiencies. This broader classification aims for better epidemiological identification of this condition.
Area of Science:
- Medical Genetics
- Developmental Biology
- Epidemiology
Background:
- Limb Body Wall Complex (LBWC) diagnosis has variable criteria, often including limb deficiencies.
- Existing diagnostic approaches may misclassify conditions based on specific anomaly combinations.
Purpose of the Study:
- To conduct a clinical and epidemiological analysis to identify a distinct entity characterized by abdominal wall defects.
- To propose a revised classification for conditions involving body wall defects and associated malformations.
Main Methods:
- Clinical and epidemiological analysis of cases with body wall defects.
- Review of existing diagnostic criteria for LBWC.
- Comparative analysis of anomaly patterns.
Main Results:
- The analysis supports an entity characterized by abdominal wall defects with a variable spectrum of anomalies.
- This entity, termed Body Wall Complex (BWC), includes cases with or without limb deficiencies.
- BWC encompasses cases irrespective of clinical pattern, etiology, or pathogenetic mechanism.
Conclusions:
- The proposed Body Wall Complex (BWC) classification offers a more inclusive and epidemiologically sound approach.
- BWC distinguishes itself from conditions like amniotic band sequence without body wall defects but includes cases with both.
- This revised understanding facilitates better identification and study of congenital anomalies involving the body wall.
Abstract:
The spectrum of defects in cases with limb body wall complex (LBWC) is quite variable since other anomalies are also observed in infants with LBWC, and some cases do not have limb deficiencies. Van Allen et al. [Am J Med Genet 1987;28:529-548] proposed that the diagnosis of LBWC (presence of body wall defects with evisceration of thoracic and/or abdominal organs, limb deficiency, and myelocystocele) should be based on the presence of two of three of the following anomalies: exencephaly or encephalocele with facial clefts, thoraco and/or abdominoschisis, and limb defects. This approach implies that an infant with encephalocele with facial clefts and limb defects may be considered as having LBWC, which I do not think is correct. I present the results of a clinical and epidemiological analysis aimed at identifying if, from an epidemiological perspective, it is possible to identify an entity which is characterized by the presence of abdominal wall defects along with other malformations including or not limb deficiencies. The result of this analysis allows us to consider that this entity should be characterized by the presence of abdominal wall defects with a variable spectrum of anomalies (with or without limb deficiencies) and, consequently, be called body wall complex (BWC). BWC includes cases regardless of their clinical pattern and the possible etiology or pathogenetic mechanism. Thus, the BWC entity does not include amniotic band sequence without body wall defects, but does include amniotic band sequence with body wall defects.