Article
A Case Report of in Utero Williams Syndrome Arterial Malformation.
Fetal and pediatric pathology - 1 Dec 2017
Kobalka Andrew John, Mrak Robert E, Gunning William T
Abstract excerpt
INTRODUCTION: Williams syndrome (WS), an autosomal dominant condition linked to gene deletions on chromosome 7, can cause supravalvular aortic narrowing and death. WS-associated mutations are believed to disrupt arterial elastin fibers, causing smooth muscle malformation, endomysial fibrosis and severe hypertension. Previous studies demonstrated arterial ultrastructural anomalies in adult WS patients. It is not...
Topics
- Adult
- Aorta
- Cell Proliferation
- Collagen
- Female
- Fetal Death
- Humans
- Male
- Muscle, Smooth
- Mutation
- Phenotype
- Pregnancy
- Prenatal Diagnosis