Osteogenesis imperfecta is an autosomal recessive multifactorial genetic disease of cattle worldwide.
Osteogenesis imperfecta is characterized by a generalized by extreme fragility of bones and joint laxity due to type I collagen dysplasia. Type I collagen is the most abundant structural protein found in the extracellular matrix of vertebrates. It assembles into fibrils forming the structural scaffold of bone, skin and other connective tissues.
Clinically affected calves often present with poor growth rates, spontaneous multiple fractures, congenital bone deformations, general joint laxity, dentinogenesis imperfecta, and light blue sclerae.
Diagnosis is based on presenting clinical signs, radiographic evidence of slender, thin-cortices of long bones and immunohistochemical identification of the disease using PCR and western blot techniques.
A differential diagnosis would include rickets, progressive degenerative myeloencephalopathy, arthrogryposis multiplex, palatoschisis, Congenital chondrodystrophy, syndactylism and epitheliogenesis imperfecta.
In this hereditary disease, little treatment is afforded that is succesful and euthanasiz of severely affected calves is recommended.
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