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Meyer Syndrome, silent aspiration, short stature, motor delays. Cure for symptoms?

After doing much research, I feel that my daughter may have say meyer syndrome . How is this usually diagnosed? She has silent aspiration, her metopic sulture has prematurely closed, failure to thrive, short stature, and motor and developmental delays. Her genetic testing has come back fine, but I m concerned that they may not have tested for this, being that it is so rare.
Asked On : Mon, 31 Dec 2012
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Pathologist and Microbiologist 's  Response
Hello and welcome to HCM

The symptoms that you have mentioned- failure to thrive, short stature, motor & developmental delay are features present in number of conditions other than Say Meyer syndrome.
Premature closure of metopic suture and silent aspirations can also be present in other genetic disorders.

What I want to stress is that do not take it for sure that your child has Say Meyer syndrome.
Diagnosis can be made after complete clinical examintion only.
There are certain signs which can be determined by the examining doctor.
So, consult a pediatrician and get the required tests done.
What kind of genetic testing has been done?
Is it karyotype- It is an investigation in which the number and structure of chromosomes is determined.
More specific tests are needed to make a diagnosis of Say Meyer syndrome.

Thanks and take care
Dr Shailja P Wahal

Answered: Tue, 1 Jan 2013
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