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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Abbreviations
- Cleidocranial dysplasia (CCD)
Synonyms
- Cleidocranial dysostosis
Definitions
- Rare autosomal dominant skeletal dysplasia due to defective intramembranous & endochondral ossification
IMAGING
General Features
Radiographic Findings
CT Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Selected References
- Berkay EG et al: Skeletal and molecular findings in 51 cleidocranial dysplasia patients from Turkey. Am J Med Genet A. 185(8):2488-495, 2021
- Azevedo Almeida LC et al: Cleidocranial dysplasia, a rare skeletal disorder with failure of the cranial closure: case-based update. Childs Nerv Syst. 36(12):2913-8, 2020
- Pourtaheri N et al: Orthognathic surgery in cleidocranial dysplasia. J Craniofac Surg. ePub, 2020
- Gonzalez GE et al: Craniofacial and temporal bone CT findings in cleidocranial dysplasia. Pediatr Radiol. 38(8):892-7, 2008
- Visosky AM et al: Otolaryngological manifestations of cleidocranial dysplasia, concentrating on audiological findings. Laryngoscope. 113(9):1508-14, 2003
- Otto F et al: Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Hum Mutat. 19(3):209-16, 2002
- Dhooge I et al: Hearing loss as a presenting symptom of cleidocranial dysplasia. Otol Neurotol. 22(6):855-7, 2001
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Abbreviations
- Cleidocranial dysplasia (CCD)
Synonyms
- Cleidocranial dysostosis
Definitions
- Rare autosomal dominant skeletal dysplasia due to defective intramembranous & endochondral ossification
IMAGING
General Features
Radiographic Findings
CT Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Selected References
- Berkay EG et al: Skeletal and molecular findings in 51 cleidocranial dysplasia patients from Turkey. Am J Med Genet A. 185(8):2488-495, 2021
- Azevedo Almeida LC et al: Cleidocranial dysplasia, a rare skeletal disorder with failure of the cranial closure: case-based update. Childs Nerv Syst. 36(12):2913-8, 2020
- Pourtaheri N et al: Orthognathic surgery in cleidocranial dysplasia. J Craniofac Surg. ePub, 2020
- Gonzalez GE et al: Craniofacial and temporal bone CT findings in cleidocranial dysplasia. Pediatr Radiol. 38(8):892-7, 2008
- Visosky AM et al: Otolaryngological manifestations of cleidocranial dysplasia, concentrating on audiological findings. Laryngoscope. 113(9):1508-14, 2003
- Otto F et al: Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Hum Mutat. 19(3):209-16, 2002
- Dhooge I et al: Hearing loss as a presenting symptom of cleidocranial dysplasia. Otol Neurotol. 22(6):855-7, 2001
