Perosomus elumbis in Danish Holstein cattle

Area of Science:

• Veterinary Genetics
• Congenital Malformations
• Bovine Diseases

Background:

• Perosomus elumbis (PE) is a rare congenital defect observed in Holstein cattle.
• Increased reporting of PE cases suggests a potential unrecognised spread of a mutant allele globally.

Observation:

• Two Holstein calves presented with absence of lumbar, sacral, and coccygeal vertebrae.
• Affected calves exhibited hypoplastic hind limbs, arthrogryposis, muscular atrophy, and myelodysplasia.
• Necropsy revealed associated abdominal organ malformations and spinal cord abnormalities.

Findings:

• Diagnostic imaging (radiographs, CT) and necropsy confirmed the skeletal and neurological defects.
• Pedigree analysis ruled out recent inbreeding but indicated remote shared ancestors.
• Dystocia due to breech presentation was noted in both cases.

Implications:

• PE may be an emerging genetic defect in the worldwide Holstein population.
• Further case sampling is crucial for genetic mapping of the underlying gene.
• PE is associated with a high risk of dystocia, requiring attention during calving.