ea0063p102 | Calcium and Bone 1 | ECE2019
, Mirnaya Svetlana
, Eremkina Anna
, Dobreva Ekaterina
, Bibik Ekaterina
Background: DiGeorge syndrome (DGS) is the rare genetic disorder caused by a 22q11.2 chromosome microdeletion. The main clinical features are associated with defective development of the pharyngeal pouch system and usually include congenital heart disease, hypoplasia of thymus resulting in immune deficiency and hypoparathyroidism. Also DGS patient has characteristic long face with narrow palpebral fissures, broad nasal bridge, micrognathia and small mouth, small dysmorphic ear...