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Parastremmatic dwarfism
Parastremmatic dwarfism is a rare bone disease that features severe dwarfism, thoracic kyphosis (a type of scoliosis that affects the upper back), a distortion and twisting of the limbs, contractures of the large joints, malformations of the vertebrae and pelvis, and incontinence. The disease was first reported in 1970 by Leonard Langer and associates; they used the term ''parastremmatic'' from the Greek ''parastremma'', or ''distorted limbs'', to describe it. On X-rays, the disease is distinguished by a "flocky" or lace-like appearance to the bones.〔 The disease is congenital, which means it is apparent at birth. It is caused by a mutation in the ''TRPV4'' gene, located on chromosome 12 in humans. The disease is inherited in an autosomal dominant manner.〔〔〔
== Characteristics ==
Parastremmatic dwarfism is apparent at birth, with affected infants usually being described as "stiff", or as "twisted dwarfs" when the skeletal deformities and appearance of dwarfism further present themselves. Skeletal deformities usually develop in the sixth to twelfth month of an infant's life. The deformities may be attributed to osteomalacia, a lack of bone mineralization.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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