Advances in clinical diagnosis and treatment of Williams syndrome / 国际儿科学杂志

ABSTRACT

Williams syndrome is a rare disease caused by 1.5 ～ 1.8 Mb gene deletion in the chromosome 7q1 1.23 region,with autosomal dominant inheritance.The incidence is about 1/10 000.It involves the cardiovascular system,nervous system,endocrine system and so on,and is most likely to cause damage to the cardiovascular system.The mortality of sudden cardiac death in patients with Williams syndrome is higher than that in healthy population.At present,suspected patients were screened by Lowery score and the American pediatrics score,then were evaluated by imaging examination and were diagnosed by gene detection.The main therapy is symptomatic treatment.Therefore,it is important to ensure an accurate diagnosis and prompt treatment.In the article,the research progress of the clinical diagnosis,gene diagnosis,gene therapy and prognosis is reviewed.