A Korean Child with Schaaf-Yang Syndrome Presented with Hearing Impairment: A Case Report

• Main Authors: Seung Hoon Lee (Author), Seung Han Shin (Author), Jung Min Ko (Author), Boram Kim (Author), Hyeon Sae Oh (Author), Man Jin Kim (Author), Seul Gi Park (Author), Ee-Kyung Kim (Author), Han-Suk Kim (Author)
• Format: Book
• Published: Korean Society of Neonatology, 2022-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Schaaf-Yang syndrome (SYS) is a rare genomic imprinting disorder caused by truncating mutations in the paternally derived MAGE family member L2 (MAGEL2) allele. It is also responsible for Prader-Willi syndrome, characterized by neonatal hypotonia, developmental delay, intellectual disability, respir...