Myriad manifestations of Williams syndrome.
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ABSTRACT:
SUBMITTER: Bagul PK
PROVIDER: S-EPMC4475858 | biostudies-other | 2015 Mar-Apr
REPOSITORIES: biostudies-other
Publications
Myriad manifestations of Williams syndrome.
Bagul Pritish K PK Borgaonkar Devendra V DV Jaiswal Vinay V Phadke Milind S MS Lanjewar Charan P CP Kerkar Prafulla G PG
Indian heart journal 20150301 2
4 months male child presented with failure to thrive. On general examination child had normal O2 saturation with characteristic elfin facies. Further evaluation of the patient showed major manifestations of Williams syndrome in form of supravalvar aortic stenosis, branched pulmonary artery stenosis along with cardiomyopathy. Although the entity is known, this article shows comprehensive diagnostic workup with the aid of multimodality imaging techniques. The genetic diagnosis of Williams syndrome ...[more]
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