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Kelly Mayr

My name is Kelly Mayr and I am writing from Colorado, USA. I work with a non profit that helps families with special needs kids find local resources. I feel that this site will be really helpful. I sometimes go with families to genetics appointments. There are several that have kids that are undiagnosed. themakenziegracefoundation.org

Folder Gabbie — by Kelly Mayr — last modified Apr 08, 2008 01:31 PM
Hi, I am going with a family to their third genetics appointment in two weeks. This little girl is 7 years old. She has short stature, obesity, brush spots in the eyes. She had pyloric stenosis as a newborn. She has a slight mongolian slant to her eyes. She has a somewhat low IQ has compared to her family. She doesn't seem to feel pain normally. She has small hand with in turning pinkys. She had interuterine growth issues and feeding issues as a baby. She has been tested for Prader Willi, William Syndrome and Smith-Magenis. She has now had an abnormal eeg and felt to have seizure activity. She has a lot of behavioral issues. Does anyone have any ideas or suggestions on what to test for. Thanks Kelly Mayr
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Other studies?

Posted by Gary S Gottesman at Apr 09, 2008 02:02 AM
Hi Kelly,

Can we presume that this little girl has had a routine chromosomal analysis, in light of the probably FISH studies for P-W, William syndrome and S-M sydrome? Some of the features you mention make me suspicious for Down syndrome, possibly a mosaic form (often quite mild) that might not have been evident on routine chromosomal studies from blood. The short stature, obesity, Brushfield spots, upslanting eyes, bent fifth fingers (clinodactyly), feeding issues as a baby, pyloric stenosis, and learning problems would all go along with this a Down syndrome diagnosis.

A cheek swab sample for FISH for chromosome 21 or a skin biopsy to look for mosaicim may be worthwhile.

Hope this is helpful!

Regards,

Gary

Gary S. Gottesman, M.D., FAAP, FACMG
Associate Professor in Pediatrics
Director, Division of Medical Genetics
Saint Louis University School of Medicine

Thank you

Posted by Kelly Mayr at Apr 13, 2008 10:39 AM
Dear Gary,
Thank you for your response. Yes, she has had a FISH to look for P_W, Williams and S-M. They checked her blood for mosaic Down syndrome. They mentioned the skin biopsy as the next step. Unfortunately, the geneticist left the practice so there was no follow up with the family. We are going to see a new geneticist next week. It has been almost a year since her last appointment. She also has a lot of behavioral and possibly pyschiatric issues.
We will bring up the skin biopsy for Down syndrome. Also She doesn't seem to feel pain such as with blood draws.

Once again thank you so much for your input!

Kelly Mayr

Gabby

Posted by Kelly Mayr at Apr 21, 2008 06:38 AM
Dear Gary,
Once again thank you for your input. What do you think about Coffin-Siris Syndrome? Gabby's mom mentioned this week that she is missing the nail on her pinky toe.

Thanks again,

Kelly Mayr