Cleidocranial dysplasia: a case report of a rare anomaly

Authors

  • VV Kumar Department of Anatomy, K.S. Hegde Medical Academy, Nitte University, Mangalore
  • S Nithyanand Department of Radiodiagnosis, Vikran Hospital, Mysore
  • V Kumar Department of Anatomy, K.S. Hegde Medical Academy, Nitte University, Mangalore

DOI:

https://doi.org/10.3126/njms.v1i2.6615

Keywords:

Autosomal dominant, cleidocranial dysplasia, dysostosis

Abstract

Cleidocranial dysplasia (CCD) is a rare hereditary disease of unknown etiology which was previously known as cleidocranial dysotosis. It usually follows an autosomal dominant mode of transmission. The phenotype is characterized by general dysplastic bone formation manifested by abnormalities in the shoulder girdle, skull, jaw and dentition. We report a case of a six year old female child presenting with classical features of CCD. An outstanding feature of this case is that it did not follow a familial pattern of inheritance since the patient is the only member in the family suffering from such disorder. The clinician should be aware of the characteristic features of CCD for early diagnosis and initiating the appropriate treatment. The clinical, radiological findings and its embryological cause are discussed.

DOI: http://dx.doi.org/10.3126/njms.v1i2.6615

Nepal Journal of Medical Sciences. 2012;1(2): 135-7

Downloads

Download data is not yet available.
Abstract
525
PDF
766

Downloads

Published

2012-08-02

How to Cite

Kumar, V., Nithyanand, S., & Kumar, V. (2012). Cleidocranial dysplasia: a case report of a rare anomaly. Nepal Journal of Medical Sciences, 1(2), 135–137. https://doi.org/10.3126/njms.v1i2.6615

Issue

Vol. 1 No. 2 (2012)

Section

Case Reports

License

Copyright © by Nepal Journal of Medical Sciences. The ideas and opinions expressed by authors of articles summarized, quoted, or published in full text in this Journal represents only opinions of authors and do not necessarily reflect the official policy of Nepal Journal of Medical Sciences or the institute with which the author(s) is (are) affiliated, unless so specified.