Van Buchem&;s syndrome is characterized by all except:
Correct Answer: Distoion of mandible
Description: Van Buchem Disease: Van Buchem disease (hyperostosis coicalis generalisata) is an autosomal recessive disorder characterized by hyperostosis of the skull, mandible, clavicles, ribs, and diaphyseal coices of the long bones Most striking clinical features are the enlargement of the jaw and thickness of the skull, which may lead to facial nerve palsy, hearing loss, and optic atrophy Ref:
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