title: Facial phenotype at different ages and cardiovascular malformations in children with Williams-Beuren syndrome: a study from India.
abstract: 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.
authors.affiliation: Centre for Molecular and Metabolic Diagnostics and Research, Narayana Hrudayalaya Hospitals, Bangalore, India. drsjpatil@gmail.com
authors.forename: Siddaramappa J
authors.initials: SJ
authors.lastname: Patil
authors.forename: B G
authors.initials: BG
authors.lastname: Madhusudhan
authors.forename: Sejal
authors.initials: S
authors.lastname: Shah
authors.forename: P V
authors.initials: PV
authors.lastname: Suresh
mesh_terms: D000293:Adolescent; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D019066:Facies; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D007194:India; D007223:Infant; D008297:Male; D010641:Phenotype; D018980:Williams Syndrome / Q000150:complications* / Q000175:diagnosis*