Musculoskeletal ImagingHypophosphatasia
an autosomal recessive disorder of metabolism marked by deficient phosphatase activity in the serum leading to defective mineralization of bone resembling that of
rickets and
osteomalacia (
Fig.1,
Fig.2). Radiographically generalized deficiency or absence of bone mineralization is noted, often with fractures and shortening and bowing of the
extremities suggesting dwarfism. Irregular and frequently prominent radiolucent extensions into the metaphysis may be seen, which represent uncalcified bone matrix. Subperiosteal new bone accumulation,
craniosynostosis and presence of wormian bones may also be identified.
DR/RB
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a. Lateral radiograph of the skull demonstrates lack of mineralization of the calvarium.
b, c. AP radiograph of the lower extremities (b) and AP radiograph of the arm (c) show marked fraying of the metaphyses, bowing of several long bones and lack of normal mineralization.
(Courtesy of Michel DeMaeseneer, MD, Brussels, Belgium)
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Hypophosphatasia, Fig.1 (a) | | Hypophosphatasia, Fig.1 (b) | | Hypophosphatasia, Fig.1 (c) |
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Hypophosphatasia, Fig.2 | |