A subclinical case would be a case that does not show clinical symptoms of the syndrome..... .

I guess that's not what you ment. You have a patient with the typical clinical signs of a rare syndrome? And there is no confirmation of the diagnosis by a molecular test, because such an analysis is not available?

Sure you could publish the case, if it is indeed interesting. Maybe you can find a collaborator who has some funds available for testing? That would most likely make it a lot better.

Would you like to elaborate, what syndrome we are talking about here?

Thank you for your reply Sir!

Yes Sir. By Subclinical case, I meant lack of expression of the typical phenotypic defects of the syndrome. Rather the case had got unnoticed & hence undiagnosed untill histopathologist showed some peculiar findings, which lead to recall & thorough re-examination of the patient. The clinical diagnosis was a diagnosis of exclusion based on thorough review of literature. It was a clinically diagnosed as a sporadic case of OFDS type 1.

Dear Poonan

All unusual cases that may contribute to scientific knowledge are publishable. the problem is looking for the correct journal to publish it.

With a good clinical delineation and a presumptive diagnosis, if it can be published ... or at least you have to try!!!

Luis