ESPE Abstracts

Wiedemann-Steiner syndrome (WSS) is a rare genetic disease characterized by growth retardation, developmental delay, intellectual disability, facial gestalt, and with or without congenital anomalies. The disease is diagnosed based on suggestive findings and mutation of KMT2A gene. I am presenting 2 cases of WSS including novel mutation of KMT2 A gene. Case1 A 10 years old girl visited the clinic due to short stature. She was 127.2cm (2 percentile, SDS -1.89),...