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Congenital Hepatic Cyst in Patients With Patau Syndrome: A Rare Clinical Finding. | LitMetric

Trisomy 13 (T13), frequently referred to as Patau syndrome, is a rare autosomal aneuploidy most commonly due to nondisjunction in meiosis. Frequently seen characteristics include cleft lip, cleft palate, cerebral defects, anophthalmia, and polydactyly among many more. We report a rare case of a newborn female with T13, demonstrating several known anomalies associated with the syndrome and an associated large congenital hepatic cyst, exhibiting a significant mass effect on vital organs. Based on a literature review conducted in August 2023, we found no previous documentation of a congenital hepatic cyst reported with T13.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10620062PMC
http://dx.doi.org/10.7759/cureus.46377DOI Listing

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