Research Article
Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA
Table 1
Clinical characteristics of WBS patients.
| Clinical characteristic | | % |
| Typical WBS facies* | 54/55 | 98.2 | Developmental delay | 54/55 | 98.2 | Hypersocial behavior | 52/55 | 94.5 | Hyperacusis | 52/55 | 94.5 | Congenital heart disease | 45/55 | 81.2 | Genitourinary symptoms | 47/55 | 85.5 | Short stature | 24/55 | 43.6 | Hypertension | 20/55 | 36.4 | Microcephaly | 17/55 | 31.0 |
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Typical WBS facies based on the score proposed by the Genetics Committee of the American Academy of Pediatrics (2001).
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