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Atypical Williams syndrome in an infant with complete atrioventricular canal defect
Author(s) -
AhrensNicklas Rebecca C.,
Reichert Sara L.,
Zackai Elaine H.,
Kaplan Paige B.
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37288
Subject(s) - supravalvular aortic stenosis , pulmonic stenosis , short stature , atrioventricular septal defect , medicine , williams syndrome , lesion , noonan syndrome , phenotype , atrioventricular canal , stenosis , cardiology , pathology , biology , genetics , gene , heart disease , cognition , psychiatry
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.