hrp0086p2-p720 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

Familial Williams Syndrome

Isguven Sukriye Pinar , Aydin Dilek Bingol , Karkucak Mutlu

Background: Williams Syndrome (WS) is a multisystemic genetic syndrome, which includes characteristic appearance of “elfian face”, growth retardation, mild mental retardation, hypersociality, infantile hypercalcemia, and other endocrine, cardiovascular, and urinary abnormalities. WS is caused by the microdeletion of chromosome 7q11.23; it is usually sporadic but rare autosomal dominant familial cases have been reported in the literature. We present a boy and his moth...