A 24 year old male presents to the clinic for routine checkup. On routine radiograph, supernumerary teeth are seen. General examination reveals hypermobility of shoulders and Gorlin sign is absent. What is the most probable diagnosis?
Correct Answer: Marie-Sainton Disease
Description: Cleidocranial Dysplasia (Marie and Sainton’s disease, Scheuthauer-Marie-Sainton syndrome, mutational dysostosis)
Absence of clavicle causes unusual mobility of the shoulders with the tendency of the patients to bring their shoulders forward till they meet in the midline. Cleidocranial dysplasia is a syndrome of unknown cause. It is usually transmitted as an autosomal dominant trait.
Gorlin sign: It is the ability to touch the tip of the nose with the tongue. It is present in Ehlers-Danlos syndrome.
Category:
Radiology
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