EP10.29: Prenatal diagnosis of Williams syndrome: Electronic Poster Abstracts

Williams syndrome is a genetic disease caused by a microdeletion in the 7q11.23 region. It is characterised by congenital heart disease, mainly supravalvular aortic stenosis(SVAS), facial dysmorphism. A 30-year-old multiparous woman was introduced to our tertiary centre at 33 weeks of gestation because of fetal growth restriction. She had no significant past medical history and no history of genetic disorders. Sonographic findings showed fetal growth restriction, SVAS, supravalvular pulmonary stenosis, left renal hypoplasia (or aplasia), cryptorchidism and facial dysmorphism such as long philtrum, thick vermilion of the upper and lower lips, periorbital fullness, large ear lobes and wide mouth. By a detailed three- and four-dimensional (3D/4D) examination, the fetus continued opening a mouth. By the findings of SVAS and facial dysmorphism, we prenatally suspected to diagnose the fetus as Williams syndrome. A 2152g male infant was delivered by Caesarean section at 38 weeks of gestation because of previous Caesarean delivery. On physical examination of the infant, he had the typical findings similar to prenatal diagnosis. The 7q11.23 microdeletion was demonstrated by fluorescence in situ hybridisation. The typical findings such as SVAS, facial dysmorphism such as open mouth posture by 3D/4D examination is very useful to diagnose Williams syndrome. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.