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Thursday, July 31, 2014
Inherited Disorders and Birth Defects
Does my nephew have BCH?
My nephew has always felt floppy or jello-ee. The first time I noticed it was when he was about 4 months old. He is almost ten months now and he still needs support while sitting, he tends to lean forward and after a couple of minutes he falls. He also cannot bear any weight on his legs and he hates being on his belly. In the stroller he is mostly laying down and he does not eat solid food with out spitting it up. Otherwise he is very attentive at the world around him and he seems to interact with his family. Could he have Benign Congenital Hypotonia?
From your description, your nephew does seem to have low tone. There are so many reasons why a baby might have low tone (hypotonia) - benign congenital hypotonia is just one of the many possible diagnoses.
I cannot make a diagnosis based on a description. I would recommend that you talk to your family and see if they are concerned as well. Your nephew's doctor is the best person to evaluate your nephew.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University