Abstract
Cleidocranial dysplasia (CCD) is a rare genetic disorder affecting primarily the cranium, clavicle, and dental tissues. The expression of this disorder can vary widely in severity, even within the same family. Here we present a case report of an affected mother and son with classical manifestations of the disease.
Similar content being viewed by others
References
Adhikari A, Shrestha S, Bhattarai P et al (2022) Cleidocranial dysplasia—A case report of incidentally found and lately diagnosed disorder. Clin Case Rep 10:e06440
Vanesa, Villamil et al (2021) Cleidocranial dysostosis: a case report with clinical illustration. Pan Afr Med J 38(368). https://doi.org/10.11604/pamj.2021.38.368.29204
Tanaka JLO, Ono E, Filho EM, Castilho JC, Moraes ME (2006) Cleidocranial dysplasia: importance of radiographic images in diagnosis of the condition. J Oral Sci 48(3):161–166
Shafer WG, Hine MK, Levy BM (1983 Aug) A textbook of oral pathology, 4th edn. Elsevier Health Scinces, US, pp 260–265
Verma R, Jindal MK, Maheshwari S (2010) Familial cleidocranial dysplasia. Int J Clin Pediatr Dentistry January-April 3(1):57–61
Marie P, Sainton P (1898) Sur la dysostose cleido-cranienne herediataire. Rev Neurol 6:835–838
Rajendran R, Ahmad M (2012) Diseases of Bone and Joints. In: Shafer’s textbook of oral pathology (Shafer WG, Hine MK, Levy MB. 7th ed.) Elsevier, PA, USA, ; pp. 725–777
May;121(1):5–16. 7, Sharma A, Yadav R, Ahlawat K (1995) ;32:588–592
Mudlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, Lindhout D, Gole WG, Henn W, Knoll JHM, Owen MJ, Mertelsmann R, Zabel BU, Olsen BR (1997) Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 89:773–779
Mundlos S (1999) Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet 36:177–182
Zou SJ, D’ Souza RN, Ahlberg T, Bronckers AL (2003) Tooth eruption and cementum formation in the Runx2/Cbfa1 heterozygous mouse. Arch Ora Biol 48:673–677
Kolokitha, Ioannidou (2013) A 13-year-old caucasian boy with cleidocranial dysplasia: a case report. BMC Res Notes 6:6
Bharti K (2016) Goswami M:cleidocranial dysplasia: a report of two cases with brief review. Intractable & Rare Diseases Research 5(2):117–120
Author information
Authors and Affiliations
Contributions
Sugandha Verma, K Srikrishna and Vikas Kumar were involved in dental and medical treatment, data collection, interpretation of the radiological findings and drafting of the manuscript. Sugandha Verma and Vikas Kumar were involved in editing and revising the manuscript. All the authors read and approved the final version of the manuscript.
Corresponding author
Ethics declarations
Consent
Written informed consent was obtained from the patient’s mother for the publication of this case report.
Competing Interests
The authors declare that they have no competing interests.
Additional information
Publisher’s Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.
About this article
Cite this article
Verma, S., Koppula, S. & Kumar, V. Familial Cleidocranial Dysplasia: A Diagnostic Challenge. Indian J Otolaryngol Head Neck Surg 76, 1161–1163 (2024). https://doi.org/10.1007/s12070-023-04194-2
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12070-023-04194-2