Williams-Beuren Syndrome with Brain Dysplasia

Abstract

Investigators from Jichi and Yokohama City Universities, Japan, report a patient with the common Williams-Beuren syndrome (WBS) deletion in 7q11.23 who presented with severe cerebral and cerebellar dysplasia and progressive hypertrophic cardiomyopathy.

Keywords

• williams-beuren syndrome
• facial characteristics
• neurologic symptoms