Cleft palate in Williams syndrome

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 consi...

Descripción completa

Detalles Bibliográficos
Autores principales: Domenico, Scopelliti, Orlando, Cipriani, Graziana, Fatone Flavia Maria, Papi, Piero, Giulia, Amodeo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3645618/
https://www.ncbi.nlm.nih.gov/pubmed/23662266
http://dx.doi.org/10.4103/2231-0746.110071
Descripción
Sumario: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.

Ejemplares similares