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单词 Robinow syndrome
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Robinow syndrome

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Robinow syndrome

Note characteristic fetal face, hypogenitalism and brachydactyly of hands and feet.
X-ray upper limbs and hands showing mesomelic shortening and brachydactyly (A), gingival hyperplasia (B) and X-ray vertebrae showing hemivertebrae and vertebral fusion.

Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral segmentation. The disorder was first described in 1969 by human geneticist Meinhard Robinow, along with physicians Frederic N. Silverman and Hugo D. Smith, in the American Journal of Diseases of Children. By 2002, over 100 cases had been documented and introduced into medical literature.

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更新时间:2025/6/17 22:16:21