title: The Williams syndrome: an Italian collaborative study.
abstract: Williams syndrome (WS) is a multiple congenital anomalies/mental retardation syndrome caused by a microdeletion on the long arm of chromoome 7 including the elastin gene. Possibly it is a contiguous gene syndrome with autosomal dominant transmission. Seventy-seven WS patients from 11 Italian Pediatric-Dysmorphology-Genetics Units were collected by means of a questionnaire designed to draw a comprehensive clinical picture, to define the frequency of different traits and associations thereof, to better understand the clinical evolution, to improve the prognosis and to ameliorate the follow-up. The most important signs for diagnosis, based on their relative frequencies, are: mental retardation with characteristic outgoing behaviour and hoarse voice; facial findings like stellate iris, periorbital fullness and thick lips; congenital heart disease. The frequency of the clinical signs reported in our patients are on the whole concordant with those found in the literature; the only significant differences concern low stature, hallus valgus, hypoplastic nails, joint contractures and ear infections. The multisystemic nature of this syndrome requires a coordinated and integrated approach in order to avoid fragmentary interventions.
authors.affiliation: Istituto di Discipline Pediatriche, Università degli Studi, Torino.
authors.forename: P
authors.initials: P
authors.lastname: Franceschini
authors.forename: A
authors.initials: A
authors.lastname: Guala
authors.forename: M P
authors.initials: MP
authors.lastname: Vardeu
authors.forename: F
authors.initials: F
authors.lastname: Signorile
authors.forename: D
authors.initials: D
authors.lastname: Franceschini
authors.forename: P
authors.initials: P
authors.lastname: Mastroiacovo
authors.forename: A
authors.initials: A
authors.lastname: Gianotti
authors.forename: E
authors.initials: E
authors.lastname: Livini
authors.forename: F
authors.initials: F
authors.lastname: Lalatta
authors.forename: A
authors.initials: A
authors.lastname: Selicorni
authors.forename: G
authors.initials: G
authors.lastname: Andria
authors.forename: G
authors.initials: G
authors.lastname: Scarano
authors.forename: M
authors.initials: M
authors.lastname: Della Monica
authors.forename: R
authors.initials: R
authors.lastname: Rizzo
authors.forename: L
authors.initials: L
authors.lastname: Zelante
authors.forename: M
authors.initials: M
authors.lastname: Stabile
authors.forename: O
authors.initials: O
authors.lastname: Gabrielli
authors.forename: G
authors.initials: G
authors.lastname: Neri
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002648:Child; D002675:Child, Preschool; D019066:Facies; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007558:Italy / Q000453:epidemiology; D008423:Maternal Age; D010290:Parents; D010331:Paternal Age; D018980:Williams Syndrome / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics