Gastroschisis and Related Disruptive Disorders Associated with Amyoplasia: Implications for Decreased Maternal Age Effects, Increasing Rates, and Pathogenetic Heterogeneity

Introduction: Gastroschisis and amyoplasia are disruptive disorders that are usually found separately, but that can occasionally associate. Their relationship is examined to help understand the pathogenetic processes involved.
Methods: Data was re-examined from extensively studied amyoplasia cohorts published previously.
Findings: Although gastroschisis has increased in frequency 30 – 40-fold or more over several decades, this has not occurred for amyloplasia associated cases, indicating a different pathogenesis for the abdominal disruption here. A lower decreased maternal age effect for gastroschisis with amyoplasia compared to isolated cases supports this difference. The sex ratio for amyoplasia with gastroschisis and/or intestinal atresia unexpectedly showed an apparently significant excess of females, despite a small excess of males with amyoplasia alone.

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Author: Mark Lubinsky

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