Case review

by Hila Barash — last modified Oct 19, 2007 10:31 AM

2 year old with hypotonia, developmental delay in growth and motor skills, feeding difficulties, no obvious impaired cognitive ability.

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Hypotonia

Posted by admin at Oct 19, 2007 10:33 AM

It would be useful if you could provide more detail. Are there any observable traits? Are there any biochemical abnormalities evident from blood tests?
Many thanks,
admin

More info request

Posted by Alycia Shilton-Lloyd at Oct 23, 2007 09:33 AM

Dear Hila,
You case sound slightly similar to mine (DL in Alycia Shilton-Lloyd folder). My son is just about 22 months, but also had delay in growth and motor skills, + feeding difficulties. Has your case been tested for any specific genetic condition yet? Fragile X is one of the first they may do, if your case is male. I see the admin asked if you have any lab results...did your Dr. also recommend a bone-age analysis? You may wish to ask for that, due to the growth delay (is the child small in stature, given parents height, or just low in weight?) Is the head circumference appropriate with height/weight/age group? Has the child been looked at for acid-reflux? Has the interior of the mouth been examined for structural abnormalities? Are there any physical features of the child that do not seem to be inherited? It's funny, but sometimes something as simple as eye-lash length often can help a geneticist make a diagnosis.