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Hello, Regarding Osteogenesis Imperfecta , Is This Something That Would

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Posted on Sun, 21 Feb 2021
Question: Hello,

Regarding osteogenesis imperfecta, is this something that would require genetic testing or can it be diagnosed clinically?

Is it true that the clinical evidence overrules the genetics? Because as advanced as medical science currently is, there are still some gene mutations we are not aware of as of yet which is why it is best to rely on physically examining the patient to check for characteristics and diagnosing based on that rather than a genetic test that may come back all clear, if that makes sense?

And if a baby displays signs of joint hypermobility, blue/grey sclera and unexplained fractures but has a genetic test which comes back with no abnormalities, is it unlikely to be caused by a bone disease or is a bone disease still possible or what other conditions could explain these symptoms?

Thank you,

Kind regards.
doctor
Answered by Dr. Dr. Praveen Tayal (23 hours later)
Brief Answer:
Clinical symptoms strongly suggest a bone disease.

Detailed Answer:
Hello,
Thanks for posting your query.
Osteogenesis imperfecta can be diagnosed clinically based on symptoms but a genetic test will surely confirm the diagnosis.
If on physical examination there is a strong suggestion that all the symptoms point towards osteogenesis imperfecta then even if the genetic test comes negative, the diagnosis will remain same. Deeper research can help in detecting any minor mutations that can cause the symptoms.
Joint hypermobility, blue/ grey sclera and unexplained fractures strongly suggest a bone disease.
I hope this answers your query.
In case you have additional questions or doubts, you can forward them to me, and I shall be glad to help you out.
Wishing you good health.
Regards.
Dr. Praveen Tayal.
For future query, you can directly approach me through my profile URL http://bit.ly/Dr-Praveen-Tayal
Note: For detailed guidance on genetic screening consult a genetics specialist

Above answer was peer-reviewed by : Dr. Yogesh D
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Answered by
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Dr. Dr. Praveen Tayal

Orthopaedic Surgeon

Practicing since :1994

Answered : 12312 Questions

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Hello, Regarding Osteogenesis Imperfecta , Is This Something That Would

Brief Answer: Clinical symptoms strongly suggest a bone disease. Detailed Answer: Hello, Thanks for posting your query. Osteogenesis imperfecta can be diagnosed clinically based on symptoms but a genetic test will surely confirm the diagnosis. If on physical examination there is a strong suggestion that all the symptoms point towards osteogenesis imperfecta then even if the genetic test comes negative, the diagnosis will remain same. Deeper research can help in detecting any minor mutations that can cause the symptoms. Joint hypermobility, blue/ grey sclera and unexplained fractures strongly suggest a bone disease. I hope this answers your query. In case you have additional questions or doubts, you can forward them to me, and I shall be glad to help you out. Wishing you good health. Regards. Dr. Praveen Tayal. For future query, you can directly approach me through my profile URL http://bit.ly/Dr-Praveen-Tayal