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荷斯坦-弗里生犊牛的成骨不全症

Osteogenesis imperfecta in Holstein-Friesian calves.

作者信息

Agerholm J S, Lund A M, Bloch B, Reibel J, Basse A, Arnbjerg J

机构信息

National Veterinary Laboratory, University Hospital, Royal Veterinary and Agricultural University, Copenhagen, Denmark.

出版信息

Zentralbl Veterinarmed A. 1994 Mar;41(2):128-38. doi: 10.1111/j.1439-0442.1994.tb00075.x.

Abstract

Eight calves with osteogenesis imperfecta were born in a Danish Holstein-Friesian herd during a two-year period. In total 92 calves were born (84 normal), and all were sired by a clinically normal Holstein-Friesian bull. The defect was probably due to a de novo dominant mutation present as a gonadal mosaicism in the bull. Affected calves were characterised by multiple fractures, congenital bone deformations, general joint laxity, dentinogenesis imperfecta, and light blue sclerae. The skin seemed normal. Electron microscopical studies revealed slightly decreased average diameter of cutaneous collagen fibrils, while the diameter of collagen fibrils in tendons and ligaments was severely reduced. Abnormalities of collagen type I from skin and compact bone were not detected by biochemical analyses.

摘要

在两年时间里,丹麦荷斯坦-弗里生奶牛群中有8头患有成骨不全症的犊牛出生。该牛群总共出生了92头犊牛(84头正常),所有犊牛均由一头临床正常的荷斯坦-弗里生公牛所生。这种缺陷可能是由于公牛性腺嵌合体中存在的新生显性突变所致。患病犊牛的特征为多发性骨折、先天性骨骼畸形、全身关节松弛、牙本质发育不全和浅蓝色巩膜。皮肤看起来正常。电子显微镜研究显示,皮肤胶原纤维的平均直径略有减小,而肌腱和韧带中的胶原纤维直径则严重减小。生化分析未检测到皮肤和密质骨中I型胶原的异常。

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