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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Diagnosed With Russel Silver Syndrome After Looking At The Facial Features. Genetic Test Normal. What Other Things Should Be Looked Out For?

hi there my question was regarding russel silver syndrome my daughter was born with weight of 3.4 kg and 51 cm in height it was on her 2 year cheek up when the doctor brought the subject that she might have rss other than the facial features that he pointed out she is a very normal baby she just has a triangular face and she does not eat well her wight right now at 2 year is 10 kg and height is 83.5 i did a genetic test and it came out normal so what should i be looking at did a bone age and that was fine as well i do not what to do next and what are the major things i should see in order to find out that she acutely has the syndrome or nt thank you very much
Fri, 6 Dec 2013
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Orthopaedic Surgeon,  's  Response
Hello.
Thanks for writing to us.
The diagnosis of the syndrome with a normal gene test is doubtful. It is not diagnosed based only on the clinical features. You need to consult a geneticist for proper evaluation.
I hope this information has been both informative and helpful for you.
Regards,
Dr. Praveen Tayal ,
drtayal72@gmail.com
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Diagnosed With Russel Silver Syndrome After Looking At The Facial Features. Genetic Test Normal. What Other Things Should Be Looked Out For?

Hello. Thanks for writing to us. The diagnosis of the syndrome with a normal gene test is doubtful. It is not diagnosed based only on the clinical features. You need to consult a geneticist for proper evaluation. I hope this information has been both informative and helpful for you. Regards, Dr. Praveen Tayal , drtayal72@gmail.com