KMT2A基因新突变导致Wiedemann-Steiner综合征1
例并文献复习
上官华坤;胡旭昀;沈亦平;袁欣;张莹;陈瑞敏
【期刊名称】《中华内分泌代谢杂志》 【年(卷),期】2019(035)001
【摘要】Objective To analyze the clinical and biochemical,as well as genetic characteristics of a patient with Wiedemann-Steiner syndrome (WDSTS).Methods The clinical data of a patient with WDSTS were collected.The patient was treated with recombinant human growth hormone (rhGH) combined with gonadotrophine-releasing hormone agonist (GnRHa).Blood samples of the patient and her parents were taken for whole-Exome Sequencing (WES).Relevant literatures about KMT2A mutations were reviewed.Results The 5-year old girl presented with growth retardation,with height 100 cm (-2.4 SD),torpid reaction,and facial anomalies including low hairline,thick eyebrow and hair,hypertelorism,a wide nasal bridge.She had small and puffy hands and feet,excessive hair around back of neck,bilateral forearm and lower limbs.Her GH peak level was 26.6 ng/ml during GH stimulation test.She was re-examined at the age of 10.4 years,with severe short stature (120 cm/-3.58 SD) and a Tanner stage 2 of breast development.Her bone age was found to be approximately 11.4 years.Height increased from 120 cm at the age of 10.4 years to 147.3 cm after rhGH treatment combined
KMT2A基因新突变导致Wiedemann-Steiner综合征1例并文献复习
