The Williams syndrome: An Italian collaborative study

  • Franceschini P
  • Guala A
  • Vardeu M
 et al. 
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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.

Author-supplied keywords

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

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  • P. Franceschini

  • A. Guala

  • M. P. Vardeu

  • F. Signorile

  • D. Franceschini

  • P. Mastroiacovo

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