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

Typical WBS facies based on the score proposed by the Genetics Committee of the American Academy of Pediatrics (2001).