Objective To retrospectively and summarily analyze the clinical data and pathogenic gene carrying status of 5 children with Williams syndrome,in order to improve clinicians'awareness of this disease.Methods Five children with Williams syndrome treated in the Department of Endocrinology of Baoding Hospital(Beijing Children's Hospital of Capital Medical University)were selected,the clinical data of children were collected,and whole genome CNV detection technology was used to assist in genetic diagnosis.Results Among the 5 cases,3 were males and 2 were females.Their age ranged from 59 days to 4 years and 11 months.Four children had special facial manifestations,and the other one was male,59 days,with no obvious special facial manifestations.The color Doppler ultrasound of the hearts of 5 children all showed abnormal cardiac structures,mainly aortic valve stenosis and pulmonary artery stenosis.Four children had backward physical and intellectual developments,and the other one needed to be followed with physical and intellectual developments due to his young age.All three boys had oblique inguinal hernia and two girls had no oblique hernia.One of them had hypothyroidism and hypercal-caemia,with a highest blood calcium of 2.77 mmol/L.One had a kidney stone.One had a congenital hypertrophic pyloric stenosis.Genetic examination results showed that all 5 children had different degrees of gene fragment deletion in 7q1 1.23 region.Conclusion Williams syndrome has complex and diverse clinical manifestations due to the degree of gene deletion in 7q1 1.23 region.The main manifestations include"elf'like special face,congenital cardiovascular malformations,mental re-tardation,growth and development disorders and endocrine abnormalities.In the process of WS diagnosis,it is easier to make clinical diagnosis based on Lowery scoring method and American pediatrics diagnostic score method.Genetic testing can help further assist in diagnosis.
Williams syndromegene testing7q11.23 regionclinical diagnosis
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