Autosomal recessive infantile osteopetrosis

Discussion:

This is a typical case of an infantile osteopetrosis, which is an autosomal recessive disease that affects the function of the osteoclasts resulting in bone overgrowth and loss of normal architecture. Although the bones are big, they are weak and brittle and patients usually develop fractures from minor trauma with poor healing process. This form is more severe compared to the autosomal dominant adult form with most affected children die in the early childhood.

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