Open AccessCleft palate in Williams syndrome
Author(s) -
Domenico Scopelliti,
Cipriani Orlando,
Fatone Flavia Maria Graziana,
Piero Papi,
Giulia Amodeo
Publication year - 2013
Publication title -
annals of maxillofacial surgery
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.365
H-Index - 6
ISSN - 2231-0746
DOI - 10.4103/2231-0746.110071
Subject(s) - elastin , medicine , williams syndrome , congenital malformations , congenital disorder , pediatrics , genetics , pathology , surgery , psychiatry , pregnancy , biology , cognition
Williams-Beuren syndrome (WBS) is a genomic neurodevelopmental disorder, estimated to occur in approximately 1 in 10,000 persons. It is caused by a deletion of the "elastin" gene on chromosome 7q11.23 and was described officially in 1961 by Williams, Barrat-Boyes, and Lowe. Cleft palate is not considered in the medical literature as a part of the multisystem disorders of the Williams syndrome but it was yet described. We present our experience of a patient who presents cleft palate among other congenital malformations.