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Up to: Autosomal recessive disease · Brachyolmia
Autosomal recessive brachyolmia
Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.
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Brachyolmia type 1, Hobaek type 0 trials
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Brachyolmia type 1, toledo type 0 trials