DiGeorge syndrome – case report

DiGeorge syndrome is a relatively common genetic disorder (1:4000) associated with a microdeletion in the locus 22q11.2. The most characteristic symptoms of this syndrome include heart defects, weakened immunity, palatal structural abnormalities. Abnormalities of other systems and organs can also be present. Malocclusions observed in patients with DiGeorge syndrome include class II malocclusions and hypodontia. Aim. The aim of this paper was to describe a case of a male patient with DiGeorge syndrome, eligible for treatment at the Department of Orthodontics, the Medical University of Warsaw. Case report. A case report of a male patient with DiGeorge syndrome diagnosed at 4 years old was presented. The patient underwent repair surgeries for a heart defect and disorders of the urogenital system and motor system. He had mild cognitive disturbances. However, no weakened immunity or abnormal palatal structures were observed. The orthodontic examination demonstrated a severe posterior defect that did not respond to correction with functional treatment. Summary. The article presents characteristic phenotypic features of DiGeorge syndrome that should be well-known to physicians of various specialities, including dental surgeons. This would lead to an early diagnosis of patients. Making a diagnosis and starting appropriate treatment in patients with this syndrome will improve the quality of life and length of their lives. (Laskowska M, Dąbkowska M, Witanowska J, Walerzak M, Zadurska M. DiGeorge syndrome – case report. Orthod Forum 2020; 16 (1): 56-67).