Childhood Diseases

Question
Posted by: Racoon | 2012-05-24

Q.

Difficult question...

Dear Prof

I have previously asked you many questions regarding my 3.5 yo son who has Chiari 1 malformation. I have a nagging concern that he might have a genetic problem, as he has a number of traits/issues, ie (slight ) growth retardation, pyloric stenosis, Chiari 1 malformation, 3 hair whorls and a cowlick, a double tooth, possible macroglossia with drooling (seeing speech therapist for evaluation tomorrow), a potbelly (feels like diastasis recti) and constipation, possible crease/dimples in earlobes and enlarged liver and spleen (according to a surgeon and one pead, but not our paed). Does this constitue enough to warrant genetic evaluation/counseling?

many thanks!

Expert's Reply

A.

Paediatrician

This is indeed a difficult question, but you certainly could be correct. Your son may have a single gene defect rather than a recognisable syndrome. It would be best to take him to be seen by a paediatric geneticist.These experts usually work in the main academic hospitals.

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