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.