Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient
Imaging Science in Dentistry
;
: 187-192, 2015.
Article
Dans Anglais
| WPRIM
| ID: wpr-71150
ABSTRACT
Cleidocranial dysplasia (CCD) is a rare congenital disorder, typically characterized by persistently open skull sutures, aplastic or hypoplastic clavicles, and supernumerary teeth. Mutations in the gene encoding the runt-related transcription factor 2 (RUNX2) protein are responsible for approximately two thirds of CCD patients. We report a 20-year-old CCD patient presenting not only with typical skeletal changes, but also complex dental anomalies. A previously undiagnosed odontoma, 14 supernumerary teeth, a cystic lesion, and previously unreported fused primary teeth were discovered on cone-beam computed tomography (CBCT) scans. Mutation analysis identified the causal c.578G>A (p.R193Q) mutation in the RUNX2 gene. At 20 years of age, the patient had already missed the optimal period for dental intervention. This report describes the complex dental anomalies in a belatedly diagnosed CCD patient, and emphasizes the significance of CBCT assessment for the detection of dental anomalies and the importance of early treatment to achieve good outcomes.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Crâne
/
Matériaux de suture
/
Dent de lait
/
Dent surnuméraire
/
Facteurs de transcription
/
Odontome
/
Clavicule
/
Dysostose cleido-crânienne héréditaire
/
Tomodensitométrie à faisceau conique
/
Malformations et maladies congénitales, héréditaires et néonatales
Type d'étude:
Etude diagnostique
/
Étude pronostique
Limites du sujet:
Humains
langue:
Anglais
Texte intégral:
Imaging Science in Dentistry
Année:
2015
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS