Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients.

doi:10.1016/j.ejmg.2007.05.005

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Article

Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients.

European journal of medical genetics - 1 Jan 2000

Ferrero Giovanni Battista, Biamino Elisa, Sorasio Lorena, Banaudi Elena, Peruzzi Licia, Forzano Serena, di Cantogno Ludovica Verdun, Silengo Margherita Cirillo

Abstract excerpt

Williams-Beuren syndrome (WS) is a rare multi-system genomic disorder, caused by 7q11.23 microdeletion with a prevalence of 1/7500-1/20,000 live births. Clinical phenotype includes typical facial dysmorphism (elfin face), mental retardation associated with a peculiar neuropsychological profile and congenital heart defects. We investigated 22 WS patients (mean age of 9.7 years, range 1 day to 39 years) with a...

Topics

Adolescent
Adult
Child
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 7
Cohort Studies
Craniofacial Abnormalities
Developmental Disabilities
Female
Humans
Infant
Infant, Newborn

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Intellectual Disability

Male

Phenotype

Williams Syndrome

Source

Open in PubMed

Identifiers

PMID: 17625998
DOI: 10.1016/j.ejmg.2007.05.005

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.