Zespół CHARGE - opis przypadku ze szczególnym uwzględnieniem wad części twarzowej czaszki

Case report of a girl with multiple congenital malformations. On the basis of coexisting coloboma of the optic nerve, iris and retina, together with atresia of choanae, ear abnormalities and deafness, heart defects and retardation of growth and development a diagnosis of CHARGE syndrome was established. Malformations in the facial region such as asymmetry, hypodontia, defects of tooth structure are described.