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Jef Burk
Jef Burk, Doctor
Category: Medical
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Experience:  MBBS. I've been teaching,practicing and learning since 1985.
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I have a granddaughter who is almost 3 yrs old. This weekend

Resolved Question:

I have a granddaughter who is almost 3 yrs old. This weekend she fractured her femur, but didnt have any noticable accidents, bruises or other signs of trauma. Found only because she started limping, along with this she is slightly knock kneed, has poor speech skills and is scheduled for a hearing screening due to speech issues. I am worried about brittle bone disease, are there other signs I should look for as far as symptoms? Is there a test I can ask for to rule this out? Or are there other causes for these symptoms I should be aware of?
Submitted: 4 years ago.
Category: Medical
Expert:  Jef Burk replied 4 years ago.

Hi

 

I am sorry to hear about your granddaughter and I hope she makes a good recovery.

 

For sure brittle bone disease needs to be considered - especially as she may have a hearing problem - this is found in about 40% of cases.

 

There are different types of brittle bone disease severe to mild.

 

Her history would fit with "type 1" which is the mildest form of the condition.

 

Other features would include dental problems , leaky heart valves and a blueish tinge to the whites of the eyes.

 

You can read up some more on the link below.

 

Please get back to me if you need to chat some more.

 

Dr Jef

 

http://www.patient.co.uk/doctor/Osteogenesis-Imperfecta.htm

 

 

 

Jef Burk, Doctor
Category: Medical
Satisfied Customers: 2639
Experience: MBBS. I've been teaching,practicing and learning since 1985.
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Jef Burk
Jef Burk
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MBBS. I've been teaching,practicing and learning since 1985.