The Williams syndrome: An Italian collaborative study

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

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)421-428
Number of pages8
JournalMinerva Pediatrica
Issue number10
Publication statusPublished - Oct 1996


  • Aortic supravalvular stenosis
  • Chromosome 7
  • Elastin
  • Growth
  • Williams syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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