Cleidocranial dysplasia - Diagnosis

1. Diagnosis of Cleidocranial Dysplasia is made by clinical correlation.

2. X-rays show collar-bone or clavicle to be absent or partially developed.

3. Genetic studies to determine the mutations can also be done but is not routinely recommended.

4.The gene for the condition has been identified and found on chromosome 6 (specifically, in band p21)..

5. It is the gene for the transcription factor CBFA1 (core-binding factor alpha subunit 1) and mutations of CBFA1 cause cleidocranial dysplasia.

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APA
Dr. Reeja Tharu. (2016, March 05). Diagnosis of Cleidocranial Dysplasia/ (CCD)/ Rubber man / Marie-Sainton disease or Mutational Dysostosis. Medindia. Retrieved on Oct 06, 2024 from https://www.medindia.net/health/conditions/cleidocranial-dysplasia-diagnosis.htm.
MLA
Dr. Reeja Tharu. "Diagnosis of Cleidocranial Dysplasia/ (CCD)/ Rubber man / Marie-Sainton disease or Mutational Dysostosis". Medindia. Oct 06, 2024. <https://www.medindia.net/health/conditions/cleidocranial-dysplasia-diagnosis.htm>.
Chicago
Dr. Reeja Tharu. "Diagnosis of Cleidocranial Dysplasia/ (CCD)/ Rubber man / Marie-Sainton disease or Mutational Dysostosis". Medindia. https://www.medindia.net/health/conditions/cleidocranial-dysplasia-diagnosis.htm. (accessed Oct 06, 2024).
Harvard
Dr. Reeja Tharu. 2016. Diagnosis of Cleidocranial Dysplasia/ (CCD)/ Rubber man / Marie-Sainton disease or Mutational Dysostosis. Medindia, viewed Oct 06, 2024, https://www.medindia.net/health/conditions/cleidocranial-dysplasia-diagnosis.htm.

CleidocranialDysplasia - Diagnosis