title: Myriad manifestations of Williams syndrome.
abstract: 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 was confirmed using fluroscent in situ hybridisation techniques (FISH). In this patient most of the manifestations of elastin vasculopathy were noted in the form of involvement of ascending aorta, pulmonary arteries and myocardium. We also want to emphasis the importance of echocardiography in newborn patients with dysmorphic facies as Williams syndrome can be easily missed in neonatal period.
authors.affiliation: Department of Cardiology, King Edward Memorial Hospital, Mumbai, India. Electronic address: pritishbagul@yahoo.co.in.
authors.forename: Pritish K
authors.initials: PK
authors.lastname: Bagul
authors.affiliation: Department of Cardiology, King Edward Memorial Hospital, Mumbai, India.
authors.forename: Devendra V
authors.initials: DV
authors.lastname: Borgaonkar
authors.affiliation: Department of Cardiology, King Edward Memorial Hospital, Mumbai, India.
authors.forename: Vinay
authors.initials: V
authors.lastname: Jaiswal
authors.affiliation: Department of Cardiology, King Edward Memorial Hospital, Mumbai, India.
authors.forename: Milind S
authors.initials: MS
authors.lastname: Phadke
authors.affiliation: Department of Cardiology, King Edward Memorial Hospital, Mumbai, India.
authors.forename: Charan P
authors.initials: CP
authors.lastname: Lanjewar
authors.affiliation: Department of Cardiology, King Edward Memorial Hospital, Mumbai, India.
authors.forename: Prafulla G
authors.initials: PG
authors.lastname: Kerkar
mesh_terms: D000015:Abnormalities, Multiple; D003937:Diagnosis, Differential; D015150:Echocardiography, Doppler / Q000379:methods*; D006801:Humans; D021621:Imaging, Three-Dimensional / Q000379:methods*; D007223:Infant; D008297:Male; D011666:Pulmonary Valve Stenosis / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed / Q000379:methods*; D018980:Williams Syndrome / Q000175:diagnosis*