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

Abstract

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.

Keywords: abdominal cyst; abdominal ultrasound; congenital hepatic cyst; magnetic resonance imaging; patau syndrome; trisomy 13.