Introduction
Wiedemann-Steiner syndrome (WDSTS, OMIM 605130) is a Rare autosomal dominant genetic disease[1; 2; 3], this is the first time Wiedemann et al. described it in 1989, and more than 20 papers later reported on WDSTS[2; 4; 5; 6; 7; 8; 9; 10; 11; 12; 13; 14; 15; 16; 17; 18; 19; 20; 21]. Wiedemann-Steiner syndrome is mainly manifested as: intellectual disability, wide eye distance, abnormal teeth, high palate, thin upper lip, inner canthal epidermis, long middle and low ears, wide nose bridge, sunken nasal tip, wide nose, strabismus, down Oblique palpebral fissure, long eyelashes, aggressive behavior, language development delay, tapered fingers, seizures, hypotonia, general developmental delay, inability to grow, short toes, constipation, wide base gait, delayed bone maturation, little finger flexion Deformed, short stature, flat face[1; 10; 22]. Here we report a case of KMT2A frameshift mutation, the girl’s parents are wild type. Our research has enriched our knowledge of KMT2A mutations and suggested that proper prenatal genetic screening is also necessary.