In:
American Journal of Medical Genetics Part A, Wiley, Vol. 167, No. 12 ( 2015-12), p. 3108-3112
Abstract:
Williams‐Beuren Syndrome (WBS) is a well‐described microdeletion syndrome characterized by specific dysmorphic facial features, peripheral pulmonic stenosis, supravalvular aortic stenosis, hypercalcemia, feeding difficulties, gastroesophageal reflux, short stature, and specific intellectual disabilities (such as visual spatial problems). WBS is caused by 7q11.23 deletions that contain multiple genes known to contribute to the above phenotype. We report a neonate with a complete atrioventricular canal (CAVC) defect, an atypical cardiac lesion for WBS, and few typical phenotypic features of WBS, diagnosed at 20 days of life. © 2015 Wiley Periodicals, Inc.
Type of Medium:
Online Resource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v167.12
DOI:
10.1002/ajmg.a.37288
Language:
English
Publisher:
Wiley
Publication Date:
2015
detail.hit.zdb_id:
1493479-6
SSG:
12
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