Discussions By Condition: I cannot get a diagnosis.

andiagnosed syndrome!!!! help

Posted In: I cannot get a diagnosis. 0 Replies
  • Posted By: Anonymous
  • September 5, 2007
  • 03:16 PM

Skeletal Syndrome-help!!!!!!!!!!


My three years old son, was born after 36,3 weeks of pregnancy.He and his twin sister were delivered with a ceasarean with no other problems.He stayed inside the hospital for 12 days only for feeding because he was too small,only 1,850 krgs and 42 cm high.As soon we got home we realised that his joints were stiff and that he was having a clubfoot and also both of his hands have problems as he is having thumbs in palm.His right foot is about 1 cm shorter than the left and his left knee is bent and cannot easily be stretched. He is having total GH hormone deficiency and he is being treated with GH injections with good results so far.His intelligence is normal,he is walking running,talking and doing everything that a child of his age should do.Another problem is that he is having fever seizures since he was 12 months old, every time he has feverThe last time that happened last 45 minutes despite the medicine i gave him.His MRI was normal and he has no signs of neurological problem.Despite our trials to find what is wrong, we still have no diagnosis, exept that it might be some short of skeletal syndrome.wHAT I aam seeking is somebody with similar problems or any idea of what could that be,as in my country it is difficult to have help even from the doctors, because noone cooperates with the and all the parents are enforced to find the solutions alone.I am looking forward to your help and i am waiting to hearing from you soon.

Best regards

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