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RESEARCH PRODUCT

Familial recurrence of gastroschisis

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Abstract Background Familial forms of gastroschisis are considered rare. A search for these forms in a population-based birth registry in 1993 found a recurrence risk of 3.5% among first-degree relatives. Since then, similar investigations in population-based registries have led to contradictory results. Methods A search of the population-based birth registry "Mainz Model" for familial cases of gastroschisis and a systematic review of the literature were performed. Results The Mainz Model database yielded 1 familial recurrence out of 27 gastroschisis cases. From the literature, 37 affected families could be retrieved. Among 412 gastroschises from population-based registries, 10 familial recurrences have been found. These translate into a recurrence risk of 2.4%, with a strong tendency toward underestimation. Conclusion The existing data support the hypothesis that familial recurrence of gastroschisis is much more likely than previously thought.