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Limb body wall complex: a critical review and a nosological proposal

, : Limb body wall complex: a critical review and a nosological proposal. American Journal of Medical Genetics 47(6): 893-900

The analysis of the literature on limb body wall complex reveals a varied and rather confused spectrum of cases. However, we noticed the presence of at least 2 clearly distinguishable phenotypes. The first phenotype shows craniofacial defects and amniotic bands and/or adhesion; the second—without craniofacial defects—presents urogeniatal anomalies, anal atresia, and abdominal placental attachment, together with a persistence of the extra-embryonic coelom.We think these 2 phenotypes are the consequence of different pathogenetic mechanisms. The pathogenesis of the first type can be related to an early vascular disruption, while the pathogenesis of the second one is attributable to an intrinsic embryonal maldevelopment.Eight cases of the second phenotype were identified and the pathological findings proving this maldevelopmental origin are described.


PMID: 8279488

DOI: 10.1002/ajmg.1320470617

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