An 11 year old girl is noted to be rather short. She has a history of frequent bone fractures following minor trauma.

Question Number 0459

Question:
An 11 year old girl is noted to be rather short. She has a history of frequent bone fractures following minor trauma. On examination it is noted that her sclera is pale blue, she has a mild hearing impairment and has opalescent teeth . A likely diagnosis is

a) osteogenesis imperfecta type 1
b) osteogenesis imperfecta type 2
c) congenital indifference to pain
d) Hurler's syndrome
e) Marfan syndrome


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