Familial occurrence of Danish and Dutch cases of the bovine brachyspina syndrome

BACKGROUND: 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. CASE PRESENTATION: 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. CONCLUSION: 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.