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Facial phenotype at different ages and cardiovascular malformations in children with Williams–Beuren syndrome: A study from India
Author(s) -
Patil Siddaramappa J.,
Madhusudhan B.G.,
Shah Sejal,
Suresh P.V.
Publication year - 2012
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.35443
Subject(s) - phenotype , williams syndrome , medicine , congenital malformations , heart disease , disease , pediatrics , pathology , genetics , biology , gene , pregnancy , cognition , psychiatry
Williams–Beuren syndrome (WBS) is one of the microdeletion syndromes associated with distinct facial features, characteristic behavior phenotype (overfriendly behavior), congenital heart disease, and other malformations. Clinical features in WBS are age dependent. It is important to be aware of variable age dependent phenotype, especially facial phenotype due to its crucial role in diagnosis. Here we describe the facial phenotype of WBS at different ages (3 months to 15.1 years) and congenital heart malformations in 27 patients FISH positive for 7q11.23 microdeletion. © 2012 Wiley Periodicals, Inc.