This is an 18 year old female who presented with a pelvic fracture after having fallen from the bed. She also has a history of recurrent fractures of her wrists and ankles. Despite her recurrent admissions no body spotted the spot diagnosis of her eyes.What is the abnormalities on her eyes?
What is the differential diagnosis of this abnormality?
With her clinical presentation, what is her likely diagnosis?
8 comments:
blue sclera?(or is it just the picture??)
osteogenesis imperfecta
Well done..
The Diagnosis is correct 'Osteogenesis Imperfecta'
This young girl does have blue sclera and with a history of multiple fractures from just small impact injury this diagnosis should come first in mind.
However what other medical causes of blue sclera do you know of? (MRCP candidates shold know this)
I am not a doctor but many things cause blue sclera. I believe some of them are iron deficiency anaemia, manfan's syndrome, ehler danlos syndrome...
I am not a doctor but there are many causes that cause blue sclera. To name a few, iron defeiciency anemia, manfan's syndrome, ehler danlos syndrome...
since I saw the picture and I readed the symptoms, I knew it is osteogenesis imperfecta, due to the history of fractures and the blue sclera. Personally I saw this condition in a newborn years ago in Guatemala.
Very interesting case!!!
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other causes of blue sclera include Ehlers-Danlos syndrome,pseudoxanthoma elasticum and Marfan's syndrome.the condition is also sometimes noted in normal newborn ifants and in patients with keratoconus and keratoglobus
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