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