Craniofacial Dysmorphology and Hypodontia in 22q11.2 Deletion Syndrome

The purpose of this study was to determine the craniofacialmorphology, as assessed on lateral cephalometric radiographs andto investigate the presence and/or the prevalence of hypodontia anddistribution of hypodontia in the sample of patients with deletion22q11 syndrome attending the Eastman Institute, in Stockholm,Sweden. This study indicates an increased cranial base angle (Ba/SN) in patients with 22q11.2 deletion syndrome. A slight correlationwas found between the increased cranial base and increased SN/NL angle indicating a posterior rotation of the maxilla rather thanthe mandible. When each angle, apart from the cranial angle, wasanalyzed individually, they appeared to be relatively normal. Theopen bite features of these patients can be attributed to the hypotonicactivity of the oromuscular forces rather than retrognathic features.There were no congenitally missing teeth in neither of the groups inthis study.

Anahtar Kelimeler:

22q11 deletion syndrome;CATCH 22;velocardiofacial syndrome;DiGeorge anomaly;

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The purpose of this study was to determine the craniofacial morphology, as assessed on lateral cephalometric radiographs and to investigate the presence and/or the prevalence of hypodontia and distribution of hypodontia in the sample of patients with deletion 22q11 syndrome attending the Eastman Institute, in Stockholm, Sweden. This study indicates an increased cranial base angle (Ba/SN) in patients with 22q11.2 deletion syndrome. A slight correlation was found between the increased cranial base and increased SN/NL angle indicating a posterior rotation of the maxilla rather than the mandible. When each angle, apart from the cranial angle, was analyzed individually, they appeared to be relatively normal. The open bite features of these patients can be attributed to the hypotonic activity of the oromuscular forces rather than retrognathic features. There were no congenitally missing teeth in neither of the groups in this study.

Keywords:

22q11 deletion syndrome, CATCH 22, velocardiofacial syndrome DiGeorge anomaly,

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