Update on the Genetics and Prenatal Ultrasound Features of Williams-Beuren Syndrome

Abstract

A heterozygous microdeletion of chromosome 7q11.23 causes the rare neuropsychiatric developmental disorder Williams-Beuren Syndrome. The syndrome is more difficult to diagnose before birth than after, even though the syndrome often manifests prenatally as intrauterine growth restriction and cardiovascular defects on prenatal ultrasonography. The potentially poor prognosis of affected individuals highlights the need to improve prenatal diagnosis of the syndrome. This review summarizes recent advances in our understanding of the genetics of Williams-Beuren Syndrome and its manifestations on prenatal ultrasonography, which may facilitate its early detection and inform prenatal genetic counseling.

Keywords

• |williams syndrome|genetics|ultrasonography|prenatal diagnosis