eISSN: 2956-7548
ISSN: 1734-1558
Forum Ortodontyczne / Orthodontic Forum
Current issue Archive Manuscripts accepted About the journal Editorial board Reviewers Abstracting and indexing Subscription Contact Instructions for authors Ethical standards and procedures
Editorial System
Submit your Manuscript
vol. 16
Case report

DiGeorge syndrome – case report

Małgorzata Laskowska
Magdalena Dąbkowska
Joanna Witanowska
Monika Walerzak
Małgorzata Zadurska

Zakład Ortodoncji, Warszawski Uniwersytet Medyczny/ Department of Orthodontics, Medical University of Warsaw
Zakład Ortodoncji, Uniwersyteckie Centrum Stomatologii CMWUM/ Department of Orthodontics, Dentistry Center at the Medical University of Warsaw
Forum Ortod 2020; 16 (1): 56-67
Online publish date: 2020/06/14
View full text Get citation
PlumX metrics:
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).

DiGeorge syndrome, microdeletion, TBX1, posterior defects