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The Williams syndrome: An Italian collaborative study

Minerva Pediatrica, ISSN: 0026-4946, Vol: 48, Issue: 10, Page: 421-428
1996
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Article Description

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.

Bibliographic Details

P. Franceschini; A. Guala; M. P. Vardeu; F. Signorile; D. Franceschini; P. Mastroiacovo; A. Gianotti; E. Livini; F. Lalatta; A. Selicorni; G. Andria; G. Scarano; M. Della Monica; R. Rizzo; L. Zelante; M. Stabile; O. Gabrielli; G. Neri

Medicine

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