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Boomerang dysplasia is a lethal form of osteochondrodysplasia known for a characteristic congenital feature in which bones of the arms and legs are malformed into the shape of a boomerang. Death usually occurs in early infancy due to complications arising from overwhelming systemic bone malformations.〔 Osteochondrodysplasias are skeletal disorders that cause malformations of both bone and cartilage. ==Characteristics== Prenatal and neonatal diagnosis of boomerang dysplasia includes several prominent features found in other osteochondrodysplasias, though the "boomerang" malformation seen in the long bones is the delineating factor.〔 Featured symptoms of boomerang dysplasia include: dwarfism (a lethal type of infantile dwarfism caused by systemic bone deformities), underossification (lack of bone formation) in the limbs, spine and ilium (pelvis);〔 proliferation of multinucleated giant-cell chondrocytes (cells that produce cartilage and play a role in skeletal development - chondrocytes of this type are rarely found in osteochondrodysplasias), brachydactyly (shortened fingers) and micromelia (undersized, shortened bones).〔 The characteristic "boomerang" malformation presents intermittently among random absences of long bones throughout the skeleton, in affected individuals.〔 For example, one individual may have an absent radius and fibula, with the "boomerang" formation found in both ulnas and tibias.〔 Another patient may present "boomerang" femora, and an absent tibia.〔 抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「Boomerang dysplasia」の詳細全文を読む スポンサード リンク
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