hyperphosphatasia

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 is elevated; autosomal recessive inheritance.

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hy·per·phos·pha·ta·sia (hi″pər-fos″fə-taґzhə) hyperphosphatasemia.