Clinical follow-up of young adults affected by Williams syndrome: Experience of 45 Italian patients

Maria Francesca Bedeschi, Vera Bianchi, Anna Maria Colli, Federica Natacci, Anna Cereda, Donatella Milani, Silvia Maitz, Faustina Lalatta, Angelo Selicorni

Research output: Contribution to journalArticlepeer-review


Williams-Beuren syndrome (WBS) is a multisystem disorder that requires ongoing management by a primary care physician familiar with the natural history and specific medical problems associated with the condition. While the natural history of the disease during infancy is well known, data about the adult WBS population have been published only in the last few years, and show a wide range of medical, neurological, and psychiatric problems. We investigated 45 young adult WBS patients (mean age 23 years, range 17-39 years) using a well-coordinated team which included a cardiologist, a nephrologist, an ophthalmologist, an endocrinologist, a gastroenterologist, orthodontist, and orthopedist. Here we describe the clinical features and medical complications in this cohort of patients. Most patients demonstrated a high frequency of multiple organ systems complications, in particular, abnormal body habitus; cardiovascular disease, and hypertension; sensorineural hearing loss; gastrointestinal symptoms including diverticular disease and abnormal glucose tolerance. We offer some suggestions for clinical monitoring which we propose will be useful in the overall care of adults with WBS.

Original languageEnglish
Pages (from-to)353-359
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Issue number2
Publication statusPublished - Feb 2011


  • ELN gene
  • Management adult patients
  • Rare disease
  • Williams-Beuren syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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