Agerholm Jørgen S, Peperkamp Klaas
Department of Veterinary Pathobiology, Faculty of Life Sciences, University of Copenhagen, Frederiksberg C, Denmark.
BMC Vet Res. 2007 May 8;3:8. doi: 10.1186/1746-6148-3-8.
The bovine brachyspina syndrome is a recently reported malformation in the Holstein breed. The aetiology of this syndrome is unknown, but its occurrence following breeding between genetically related and phenotypically normal cattle may indicate that it is an autosomal recessively inherited disorder. Three cases are reported and compared to the originally reported case.
Two Danish cases and a Dutch case are described. The calves were delivered following a slightly prolonged gestation period. Gross lesions consisted of growth retardation, significant shortening of the entire spine and long and slender limbs. Additionally, inferior brachygnatism and defects of several internal organs were recorded. The cases were diagnosed as having the brachyspina syndrome based on the presence of essential lesions. The parents of each case were genetically related and linked to the first reported case by a common ancestor.
The findings support the hypothesis that the brachyspina syndrome in Holstein cattle is inherited autosomal recessively and illustrate some of the assumed phenotypical variation of this syndrome. The brachyspina syndrome may be an emerging disease in the Holstein breed.
牛短脊柱综合征是最近在荷斯坦奶牛品种中报道的一种畸形病症。该综合征的病因尚不清楚，但在基因相关且表型正常的牛之间繁殖后出现这种病症，可能表明它是一种常染色体隐性遗传疾病。本文报告了三例病例，并与最初报道的病例进行了比较。
描述了两例丹麦病例和一例荷兰病例。这些犊牛在妊娠期稍有延长后出生。大体病变包括生长发育迟缓、整个脊柱显著缩短以及四肢细长。此外，还记录到下颌后缩和多个内脏器官缺陷。根据主要病变的存在，这些病例被诊断为患有短脊柱综合征。每个病例的父母在基因上相关，并且通过一个共同祖先与首例报道病例有联系。
这些发现支持了荷斯坦奶牛短脊柱综合征是常染色体隐性遗传的假说，并说明了该综合征一些假定的表型变异。短脊柱综合征可能是荷斯坦奶牛品种中一种新出现的疾病。
