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Michele
04/23/09

Is there a correlation between VCFS and broken bones?

Our 13 year old daughter has broken each arm twice through falls ice skating, biking and a simple fall. Ten years ago a geneticist told us that our daughter has 22q deletion. Our Pediatrician never officially diagnosed her and is managing her care along with her CArdiologist..Heart VSD, learning disabilities, club foot etc..However, after seeing Quinn on the View the other day I read about VCFS again and believe I saw some where about calcium in the bones being an issue..Is this something I should follow up with again with my Doctor. Our daughter is doing very well...I believe we all just put any type of "official diagnosis" in the back of our minds. They were going to do a bone density test, however, her dr, looked at her latest xray and said her bones look good...thats why I ask...is there a correlation between VCFS and broken bones (hypocalcemic???)

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Answers (2)
bhph
Thursday, April 23, 2009

Interesting to ponder both the breaks and the reason for the falls....many 22qs have motor/balance problems.  It took my son quite a while to learn to ride a bike, and othertimes, if he was tripped, would fall flat on his face.

 

Calcium is stored in bones, but also HUGELY affects the body's 'electrical system', including muscles, heart, and brain (e.g. seizures). 

 

Many people with 22q have parathyroid hormone deficiency. . . hypo-parathyroid is associated with both calcium and Vitamin D deficiency. BOTH are needed. which is why now so many calcium supplements also inclide Vit D. 

 

This kind of problem can require a prescription form of Vit D, if the over the counter supplements are not enough. 

 

The doctors who follow her should be doing calcium tests (blood) to keep an eye on the levels. My son's problems have become apparent in his teens/puberty.  22qs may not have enough parathyroid 'in reserve', and thus cannot respond to stress ( e.g. illness), when cacium levels can fall dangerously.

Btn-expert Dr. Robert Shprintzen
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Dr. Shprintzen is Director of several programs at Upstate Medical...

Friday, April 24, 2009

Michele,

Your daughter should have a bone density study. Osteopenia (a milder form of thinning of the bones than osteoporosis) is common in VCFS and is probably a bit more common in females than males with VCFS. Sometimes bones can also be more prone to breaking because the joints are a bit lax in VCFS so during falls, the arms bend in directions that make them more likely to fracture. However, the first step is definitely to get a bone density study. We recommend it for all of our patients at the VCFS International Center at your daughter's age.

 

Dr. Robert J. Shprintzen, Director

Professor of Otolaryngology and Pediatrics

VCFS International Center

Upstate Medical University

Syracuse, NY, USA 

Phone: 315-464-6590

Email: VCFS@upstate.edu

web site: www.vcfscenter.org

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