Williams-Beuren's Syndrome: A Case Report

Abstract

Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

An unusual presentation of transverse colon volvulus in a patient with Williams Syndrome: Case report and literature review

“…Williams Syndrome (WS) is a well-recognized, multi-system genetic disorder characterized by facial anomalies described as elfin faces, cognitive dysfunction, growth abnormalities, congenital heart defects, and other very rare manifestations [ 1 ]. Most (90%) of the cases of WS occur due to deletion at chromosome 7q11.23, which also includes the elastin gene [ 2 ]. The frequency of WS has been estimated to be 1 in 20,000 births, with most of the patients with a normal life expectancy [ 3 ].…”

“…The frequency of WS has been estimated to be 1 in 20,000 births, with most of the patients with a normal life expectancy [ 3 ]. Diagnosis of Williams Syndrome is mainly clinical, but detecting genetic abnormality by fluorescence in situ hybridization (FISH) aids in the diagnosis [ 2 ]. Existing literature has delineated the common clinical manifestations of this uncommon disorder [ 1 ].…”

A case report of interventricular hemorrhage in William-Beuren syndrome

“…Studies have reported that the IQ of these patients’ range between 40 and 90 [ 5 ]. The vast majority of WS cases diagnosed on clinical basis have demonstrated deletion of chromosomes 7q11.23 that has been detected by FISH (fluorescent in situ hybridization) [ 6 ]. Gene mapping has been capable of detecting various elastin mutations that have been attributed to cardiovascular manifestations of WS as isolated supravalvular aortic stenosis [ 7 ].…”