Literature DB >> 26071298

Myriad manifestations of Williams syndrome.

Pritish K Bagul1, Devendra V Borgaonkar2, Vinay Jaiswal2, Milind S Phadke2, Charan P Lanjewar2, Prafulla G Kerkar2.   

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.
Copyright © 2015 Cardiological Society of India. Published by Elsevier B.V. All rights reserved.

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Year:  2015        PMID: 26071298      PMCID: PMC4475858          DOI: 10.1016/j.ihj.2015.02.026

Source DB:  PubMed          Journal:  Indian Heart J        ISSN: 0019-4832


  1 in total

1.  Cardiovascular manifestations in 75 patients with Williams syndrome.

Authors:  M Eronen; M Peippo; A Hiippala; M Raatikka; M Arvio; R Johansson; M Kähkönen
Journal:  J Med Genet       Date:  2002-08       Impact factor: 6.318

  1 in total
  1 in total

1.  [Association between Williams syndrome and adrenal insufficiency].

Authors:  Meryem Rchachi; Maazou Mahamane Larwanou; Hanan El Ouahabi; Farida Ajdi
Journal:  Pan Afr Med J       Date:  2017-05-05
  1 in total

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