Case report identifies symptomatic omphalomesenteric duct malformation linked to 16p11.2 deletion, suggesting new implications.
Omphalomesenteric duct (OMD) is an embryologic communication between the extraembryonic yolk sac and the primitive midgut. The OMD malformations are relatively rare diseases associated with developmental defects related to the closure of the omphalomesenteric duct. These malformations can present in various forms, including cysts, fistulas, or sinuses, and may be either asymptomatic or symptomatic. Meckel's diverticulum is the most common outcome of failed OMD resorption. We report a case of a newborn with a symptomatic OMD malformation associated with a 16p11.2 microdeletion. This is the first case report of this association, and we present a literature review.
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Puvabanditsin et al. (2025) studied this question.
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