Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2023 Jul;15(Suppl 2):S1335-S1337.
doi: 10.4103/jpbs.jpbs_212_23. Epub 2023 Jul 11.

Cleidocranial Dysplasia: A Rare Case Report

Akshay A Dhobley  1 , Aparna V Thombre  2 , Dipak Ghatage  1 , Ranu Ingole Patil  1
Affiliations
Case Reports

Cleidocranial Dysplasia: A Rare Case Report

Akshay A Dhobley et al. J Pharm Bioallied Sci. 2023 Jul.

Abstract

Cleidocranial dysplasia (CCD) is a rare hereditary disease of unknown etiology which was previously known as cleidocranial dysostosis. It usually follows an autosomal dominant mode of transmission with no predilection of genre or ethnic group. It is caused by a mutation of RUNX2, characterized by generalized dysplasia of the bones and teeth. Affected individuals have short stature, atypical facial features, and skeletal anomalies affecting mainly the skull and clavicle. The dental manifestations are mainly delayed exfoliation of the primary teeth and delayed eruption of the permanent teeth, with multiple impacted supernumeraries, and the absence of cellular cementum. The frequency of this disorder is 1 per million individuals. Here we report a rare case of CCD in a 23 year old female patient having most of the characteristic features of this syndrome.

Keywords: Cleidocranial dysplasia; RUNX2; dysostosis.

PubMed Disclaimer

Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Frontal profile of the patient
Figure 2
Figure 2
Intraoral image
Figure 3
Figure 3
Orthopantomograph of the patient
Figure 4
Figure 4
Hand and wrist radiograph
See this image and copyright information in PMC

References

    1. Shafer W. G., Hine M. K., Levy B. M. Patologia bucal. Rio de Janeiro, Interamericana, 1979. 1ª. ed. Available from:https://books.google.co.in/books?id=Spk0V6TrCggC&newbks=1&newbks_redir=0... .
    1. Neville B. W., Damm D. D, Allen C. M., Bouquot JE. Patologia oral e maxilofacial. 2ª. ed Rio de Janeiro, Guanabara Koogan, 2004. Avialable from:https://www.elsevier.com/books/oral-and-maxillofacial-pathology/neville/... .
    1. Patil PP, Barpande SR, Bhavthankar JD, Humbe JG. Cleidocranial Dysplasia:A Clinico-radiographic Spectrum with Differential Diagnosis. J Orthop Case Rep. 2015;5:21–4. doi:10.13107/jocr.2250-0685.264. - PMC - PubMed
    1. Marie P., Sainton P. Sur la dysostose cleido-cranienne herediataire, Rev neurol. 6:835, 1898 On hereditary cleido-cranial dysostosis. Clin Orthop Relat Res. 1968;58:5–7. PMID:4875295. - PubMed
    1. Mundlos S. Cleidocranial dysplasia:Clinical and molecular genetics. J Med Genet. 1999;36:177–82. - PMC - PubMed

Publication types