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Limb body wall complex: a critical review and a nosological proposal
R Russo1, M D'Armiento, P Angrisani
1Department of Pathology, University of Naples, Italy.
American Journal of Medical Genetics
|November 1, 1993
Summary
The limb body wall complex presents two distinct phenotypes: one with craniofacial defects and amniotic bands, and another with urogenital anomalies and abdominal placental attachment, suggesting different developmental origins.
Area of Science:
- Embryology
- Medical Genetics
- Developmental Biology
Background:
- The limb body wall complex (LBWC) literature shows a confusing spectrum of cases.
- Two distinct phenotypes within LBWC are identifiable.
- These phenotypes may arise from different pathogenetic mechanisms.
Purpose of the Study:
- To distinguish between two phenotypes of the limb body wall complex.
- To investigate the pathogenetic mechanisms underlying these phenotypes.
- To describe pathological findings in eight cases of the second phenotype.
Main Methods:
- Literature analysis of limb body wall complex cases.
- Phenotypic classification based on observed defects.
- Pathological examination of eight cases exhibiting the second phenotype.
Main Results:
- Phenotype 1: Craniofacial defects and amniotic bands/adhesions.
- Phenotype 2: Urogenital anomalies, anal atresia, abdominal placental attachment, and persistent extra-embryonic coelom (no craniofacial defects).
- Eight cases confirmed the second phenotype's maldevelopmental origin.
Conclusions:
- The two LBWC phenotypes likely result from distinct pathogenetic pathways.
- Phenotype 1 may stem from early vascular disruption.
- Phenotype 2 is attributable to intrinsic embryonal maldevelopment.