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Talk to Pediatrician on Osteogenesis Imperfecta

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Asking For Self, Female 5, karachi

my niece aging 5 months have some fractures and we all so worried that we don't know what to do but she doesn't look like she got some problem. she moves her hands and everything looks normal I want to attach xray so you can tell me it is curable or not.

Pediatrician in Lahore - Dr. Muhammad Bilal Mazhar

Dr. Muhammad Bilal Mazhar - Pediatrician

MBBS, FCPS(Pediatrics), MRCPCH-II | Lahore

please attach a picture

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I have attached picture

1 month ago

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can you tell me which type looks like or we have to get it tested

1 month ago

Pediatrician in Lahore - Dr. Muhammad Bilal Mazhar
Dr. Muhammad Bilal Mazhar - Pediatrician

MBBS, FCPS(Pediatrics), MRCPCH-II | Lahore | Book Appointment


will need genetic testing for that

1 month ago

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the baby is in Karachi and all the appointments we are getting is one month ahead if anything you can do

1 month ago

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here it is


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doctors are saying she have osteogenesis imperfecta
she looks normal play with all of us living a normal life.
some doctors are saying its curable and some are saying its not

1 month ago

Pediatrician in Lahore - Dr. Muhammad Bilal Mazhar
Dr. Muhammad Bilal Mazhar - Pediatrician

MBBS, FCPS(Pediatrics), MRCPCH-II | Lahore | Book Appointment


it can be managed with medications but needs evaluation of the type and severity of symptoms and fractures

1 month ago

Pediatrician in Lahore - Dr. Muhammad Bilal Mazhar
Dr. Muhammad Bilal Mazhar - Pediatrician

MBBS, FCPS(Pediatrics), MRCPCH-II | Lahore | Book Appointment


however there are some clinical clues so a formal assessment is necessary as well as the look of the xray. and after that we can decide specific genetic testing

1 month ago

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here is xray aswell


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here is the test


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here is the test


Pediatrician in Layyah - Dr. Muhammad Afzal Khan

Dr. Muhammad Afzal Khan - Pediatrician

MBBS, MRCPCH II, MCPS | Layyah

review-stars

4 Positive Reviews

Osteogenesis imperfecta has 9 types. Depending upon whether the infant has blue sclera (white of the eye) or otherwise, how their limbs and chest shapes are and what are x-ray findings, besides considering other features, diagnosis about the type of the disease can be made. AKU Hospital has already made the genetic test request according to the picture you posted. While waiting for the results to arrive handle the infant with care as she may sustain a fracture with minimal force. That is the reason it is called the “Brittles Bone Disease” as well.

Pediatrician in Layyah - Dr. Muhammad Afzal Khan
Dr. Muhammad Afzal Khan - Pediatrician

MBBS, MRCPCH II, MCPS | Layyah | Book Appointment

review-stars 4 Positive Reviews

*Brittle Bone Disease

1 month ago

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Blue Sclera is which type
we can see see its blue sclera

1 month ago

Pediatrician in Layyah - Dr. Muhammad Afzal Khan
Dr. Muhammad Afzal Khan - Pediatrician

MBBS, MRCPCH II, MCPS | Layyah | Book Appointment

review-stars 4 Positive Reviews

*more than 9 types

1 month ago

Pediatrician in Layyah - Dr. Muhammad Afzal Khan
Dr. Muhammad Afzal Khan - Pediatrician

MBBS, MRCPCH II, MCPS | Layyah | Book Appointment

review-stars 4 Positive Reviews

Type I and Type III are associated wit blue sclerae.

1 month ago

Pediatrician in Layyah - Dr. Muhammad Afzal Khan
Dr. Muhammad Afzal Khan - Pediatrician

MBBS, MRCPCH II, MCPS | Layyah | Book Appointment

review-stars 4 Positive Reviews

*with

1 month ago

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it is curable she is just 5 months old
looks like a normal baby plays smiles with us.
we want to know she can be able to live normal life in future
what should we expect next

1 month ago

Pediatrician in Layyah - Dr. Muhammad Afzal Khan
Dr. Muhammad Afzal Khan - Pediatrician

MBBS, MRCPCH II, MCPS | Layyah | Book Appointment

review-stars 4 Positive Reviews

I am afraid there is no cure. Outcomes depend on the type of disease. Most people, however, have good outcomes.

1 month ago

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Thank you so much doctor for your input.

1 month ago

Attach Photo here: