A one year old male infant is brought to the pediatrician by his mother because of a copious nasal discharge.

Question Number 0458

Question:
A one year old male infant is brought to the pediatrician by his mother because of a copious nasal discharge. He is noted to have coarse features with thick lips, a large tongue, a large bulging head and a flattened nose. On examination he is found to have an enlarged liver and spleen. His history is unremarkable, he was born by a normal vaginal delivery and was examined and thought normal at birth. 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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