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My two month old daughter is having genetic testing done to…

My two month old...

My two month old daughter is having genetic testing done to test for a disease called osteogenesis imperfecta. They're testing for this because she has "prominent intra sutural bones" seen on her CT scan. My question is can a child have these intra sutural bones and NOT be OI?

Doctor's Assistant: Do you keep personal medical records to help track this?

Not yet. This is very recent testing.

Doctor's Assistant: Anything else in your medical history you think the doctor should know?

She is being tested because a toddler fell on top of her and broke her femur.

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Answered in 5 minutes by:
2/6/2018
Richard Han
Richard Han, Board Certified MD
Category: Medical
Satisfied Customers: 1,123
Experience: Physican with over 15 years experience
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Hello and thank you for your question. My name is***** am a board-certified pediatrician with over 15 years of clinical experience and I am happy to help you. Can you tell me please, is there any history in your family of OI or any other bone disease or conditions known as skeletal dysplasias?

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Customer reply replied 5 months ago
No, none. She was injured at daycare and was sent to a children's hospital where they did head to toe xrays, ct scan, eye exam and labwork. Everything looked good except for the femur and the observation of the "prominent intra sutural bones".

Thank you for that information. It is possible to have the prominent intra sutural bones and NOT have OI. It's also possible for a 2 month old to sustain a femur fracture if a heavier toddler fell directly onto her leg. However, if the nature of the femur fracture prompted doctors to perform the additional x-rays and a CT scan, then the finding of the prominent intra sutural bones would also lead them to rule out any skeletal dysplasias (or abnormal bone forming conditions), of which OI is a prominent one. It sounds to me like her doctors are doing their due diligence to rule in or out all possible explanations for for a femur fracture and prominent intra sutural bones occurring at the same time in the same child.

Can I answer any other questions for you today?

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Note, prominent intra sutural bones on CT can be associated with, but are not diagnostic of OI. Hence, the genetic testing to be sure.

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Customer reply replied 5 months ago
Thank you. They did the full work up because she was not in our care at the time and because they wanted to do a thorough investigation to rule out child abuse. They concluded the injury is consistent with the provider's account of events and this OI test is the only thing outstanding other than her healing.

I understand. Yes, that makes perfect sense. I'm glad that she is receiving such good, thorough care. Plesa let me know if you have any further questions I can help with.

If I've addressed your question and you are satisfied, please accept the answer by leaving a 5 star positive review. Thank you.

Richard Han
Richard Han, Board Certified MD
Category: Medical
Satisfied Customers: 1,123
Experience: Physican with over 15 years experience
Verified
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