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Pronunciation: hi'per-fos'fa-ta'ze-a

Definition: A skeletal dysplasia characterized by dwarfism, macrocranium, expansion of the diaphyses of tubular bones with multiple fractures, patchy osteosclerosis, leg bowing, and occasionally mental retardation; serum alkaline phosphatase level is elevated; autosomal recessive inheritance.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.