Hyperinsulinism of Kabuki Syndrome: Clinical Characteristics and Treatments

Background: Kabuki syndrome is caused by heterozygous mutations in the KMT2D or KDM6A genes and has an incidence of 1:30,000 live births. Typical features include craniofacial dysmorphism, fetal finger pads, congenital cardiac defects, hearing deficits, immune deficiency, poor feeding, growth delay, and developmental delay. Hyperinsulinism is a common but under-appreciated feature of Kabuki syndrome.

Source: Journal of Pediatric Nursing - April 30, 2020 Category: Nursing Authors: Heather McNight, Kara Boodhansingh, Laureen Mitteer, Kosuke Izumi, Katherine Lord, Charles Stanley, Diva De Leon, Amanda Ackermann Source Type: research