Clinical Diagnosis Analysis Of Pediatrics With Williams Syndrome

Objective: To guide clinical diagnosis and treatment of Williams syndrome(WS),early intervent cardiovascular system disease and improve prognosis by the typical clinical features of Williams syndrome and echocardiography data,and verification by multiplex ligation dependent probe amplification(MLPA).Methods: Collecting clinical data of 12 suspected patients with Williams syndrome in Chongqing Medical University Affiliated Children's Hospital from December 2013 to June 2016.General clinical data,laboratory data,imaging data and operation data were retrospectively analyzed.And 12 suspicious positive patients were conducted MLPA detection.Results: The mean age of 12 suspected WS children was 1.54 ± 1.20 years old,the minimum age was one-month-twenty four-day,the maximum age was four-year-two-month,the ratio between the male and female was 3:1.All the children been in growth retardation,the weight of them was significantly lower than that of the same age children.Among them,9 cases had typical "elfin-like" face and inguinal hernia in 7 cases.2-4/6 level systolic murmur were heard when were conducted heart auscultation at the 2-4 intercostal of the left edge of the sternum.Lowery score were about 3-8,American Academy of Pediatrics score were about 6-13,which is more detailed than the former,is currently a high sensitivity of the WS clinical diagnostic scoring method.MLPA detection results showed that 9 cases of children with Williams syndrome had related region(chr7q11.23 region)gene deletion.Ultrasonic cardiogram(UCG)showed supravavular aortic stenosis in 11 cases(92%),pulmonary artery stenosis in 9 cases(75%),7 cases with atrial septal defect(58%),4 cases with ventricular septal defect(33%)and aortic constriction 2 cases(17%).CTA examination was performed in 5 cases(5/12),and the results of that were in agreement with UCG.ECG and laboratory data were not specific.3 cases were operated surgical treatment,1 patient was underwent aortic enlargement with patch repair + pulmonary artery enlargement with patch repair + VSD repair +ASD repair,1 case was conducted aortic arch plasty + supravavular aortic stenosis treatment + pulmonary artery patch plasty,1 case was operated Co A repair +VSD repair +ASD repair.After operation,2 cases were survived,the prognosis of them was acceptable,1 case was death.Conclusion: The average age of children with WS was younger.The incidence rate of male was higher than that of female.They were often with a typical “elfin-like” face,mostly involved the cardiovascular system,SVAS and PAS were more common cardiovascular malformation,complicated with inguinal hernia.It is an effective screening pattern recommended for rapid diagnosis of WS that according to the typical facial features,combined with the American Academy of Pediatrics score and Lowery score,specifical UCG manifestations(SVAS,PAS),which completely consistent with the results of MLPA detection.