Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus

D. Kotzot, F. Bernasconi, L. Brecevic, W. P. Robinson, P. Kiss, G. Kosztolanyi, I. W. Lurie, A. Superti-Furga, A. Schinzel

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Abstract

Conclusion: This study confirms that WBS has a unique clinical picture which can be diagnosed clinically, but also shows that the relative frequency of individual features may have been overemphasized in the past, and that a minority of patients may exist who are clinically indistinguishable from WBS but who appear to have no deletion at 7q11. To correlate presence or absence of a 7q11 microdeletion with the clinical picture of the Williams-Beuren syndrome (WBS), we investigated 29 patients with a clinical diagnosis of WBS or WBS-like features, aged 1-30 years, using molecular analysis and/or fluorescent in situ hybridization (FISH). Deletions at 7q11 were found in 75% of the patients (22 out of 29). Nine deletions occurred on a paternal, and ten on a maternal chromosome; three deletions were demonstrated by FISH only, and parental origin could thus not be determined. All deletion patients aged between 2 years and puberty displayed a distinct pattern of facial features (including periorbital fullness, short nose with flat bridge, wide mouth, and full lips and cheeks), the characteristic outgoing social behaviour, as well as moderate growth and mental retardation. Twothirds (15 out of 22) had a cardiovascular malformation, but only one third (7 of 22) had supravalvular aortic stenosis (SVAS). A stellate iris pattern was also present in one-third of the patients only. In the four adult patients with 7q11 deletions, there was prominence of the lower lip whereas fullness of cheeks and periorbital tissue was not seen.

Original languageEnglish
Pages (from-to)477-482
Number of pages6
JournalEuropean Journal of Pediatrics
Volume154
Issue number6
DOIs
Publication statusPublished - Jun 1 1995

Keywords

  • Elastin
  • Williams-Beuren syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Kotzot, D., Bernasconi, F., Brecevic, L., Robinson, W. P., Kiss, P., Kosztolanyi, G., Lurie, I. W., Superti-Furga, A., & Schinzel, A. (1995). Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus. European Journal of Pediatrics, 154(6), 477-482. https://doi.org/10.1007/BF02029360