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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.
please attach a picture
Patient
Post Owner
here it is
Patient
Post Owner
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
4 years ago
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
4 years ago
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
4 years ago
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.
MBBS, MRCPCH II, MCPS | Layyah | Book Appointment
*Brittle Bone Disease
4 years ago
MBBS, MRCPCH II, MCPS | Layyah | Book Appointment
*more than 9 types
4 years ago
MBBS, MRCPCH II, MCPS | Layyah | Book Appointment
Type I and Type III are associated wit blue sclerae.
4 years ago
MBBS, MRCPCH II, MCPS | Layyah | Book Appointment
*with
4 years ago
Patient
Post Owner
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
4 years ago
MBBS, MRCPCH II, MCPS | Layyah | Book Appointment
I am afraid there is no cure. Outcomes depend on the type of disease. Most people, however, have good outcomes.
4 years ago
Patient
Post Owner
I have attached picture
4 years ago
Patient
Post Owner
can you tell me which type looks like or we have to get it tested
4 years ago
MBBS, FCPS(Pediatrics), MRCPCH-II | Lahore | Book Appointment
will need genetic testing for that
4 years ago
Patient
Post Owner
the baby is in Karachi and all the appointments we are getting is one month ahead if anything you can do
4 years ago