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rare genetic syndrome

hi Dr.Gareth...its not a question as such..more have you heard of anything to do with my problem..regarding my daughter this is by the way..she has goldberg and shprintzen syndrome which i dont expect you to of heard of..she has a rare..actually unheard of form of CNM..and many other complications regarding her syndrome...
i know it is autoimmune..she is now 18 and has sleep apnoea,along with learning difficulties and eye complications and she has a syrinx 9mm T6-T11..her sister had the same syndrome as its genetic..we sadly lost her in 1996 as she had heart complications which thankfully my daughter now does not...my daughter who passed had pulmonary hypertension...so they say with hirschbrungs disease....,i know you wont have full answers...but some ray of light into any information regarding anything i have mentioned would be so much appreciated with thanks
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642304 tn?1242606724
MEDICAL PROFESSIONAL
Believe me, I wish that I had some insight into these problems, but this is really outside of my area of expertise.  Perhaps one of the other forum sites that have a genetic expert could be of help.
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Avatar universal
hi thankyou for your response but believe me i have tried more or less every avenue....
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