Imaging Sci Dent.  2015 Sep;45(3):187-192. 10.5624/isd.2015.45.3.187.

Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient

• Lu H
• Zeng B
• Yu D
• Jing X
• Hu B
• Zhao W
• Wang Y

• KMID: 2045027
• DOI: http://doi.org/10.5624/isd.2015.45.3.187

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.

Keyword

Cleidocranial Dysplasia; Cone-Beam Computed Tomography; Odontoma; Tooth, Supernumerary

MeSH Terms

Clavicle
Cleidocranial Dysplasia*
Cone-Beam Computed Tomography
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Humans
Odontoma
Skull
Sutures
Tooth, Deciduous
Tooth, Supernumerary
Transcription Factors
Young Adult
Transcription Factors

Figure

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  Fig. 1 Pedigree of the family of our patient. Our patient is indicated with an arrow.

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  Fig. 2 A facial photograph shows a brachycephalic head, mild hypertelorism, and midface dysplasia.

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  Fig. 3 Intraoral photographs show retention of the primary teeth, fusion between the right mandibular deciduous lateral incisor and canine, bilateral anterior and posterior crossbite, and Angle class III malocclusion.

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  Fig. 4 A chest radiograph shows bilateral hypoplastic clavicles and a tapered thorax with oblique ribs.

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  Fig. 5 A posteroanterior cephalogram shows patency of the anterior fontanelle and persistently open skull sutures (left). A lateral cephalogram shows frontal bossing and distinct Wormian bones in the lambdoid region (right).

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  Fig. 6 A panoramic radiograph shows retention of the primary dentition, fusion between the right mandibular deciduous lateral incisor and canine, and the impaction of several permanent and supernumerary teeth with varying forms and directions.

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  Fig. 7 A. A panoramic reformatted cone-beam computed tomography (CBCT) image shows a 24.8 mm×14.0 mm radiolucency with a well-defined margin in the right premolar region of the maxilla. B. A coronal CBCT image shows an odontoma. The odontoma in the left premolar region of the maxilla presented as a 12.8 mm×6.9 mm irregular radiopacity surrounded by a radiolucent area. C. A coronal CBCT image shows part of the odontoma (arrow) and four supernumerary teeth in the left maxilla. The supernumerary teeth are different in terms of direction (normal, buccolingual, or inverted) and root development. D. A sagittal CBCT image shows a supernumerary tooth (arrow) that grew from the distal to mesial position in the left maxilla. E. A panoramic reformatted CBCT image shows fusion between the right mandibular deciduous lateral incisor and canine, which seems to be incomplete, sharing part of the pulp chamber with separate root canals. The trabeculation in the mandible is coarse and disordered.

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  Fig. 8 Partial sequence of RUNX2. Arrows point to the wild type (top) and the c.578G>A (p.R193Q) mutant type (bottom).

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