Osteogenesis imperfecta

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Osteogenesis imperfecta is an autosomal recessive multifactorial genetic disease of Holstein breeds 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[1].

Clinically affected calves often present with poor growth rates, spontaneous multiple fractures, congenital bone deformations, general joint laxity, dentinogenesis imperfecta[2], and light blue sclerae[3][4].

Diagnosis is based on presenting clinical signs, radiographic evidence of slender, thin-cortices of long bones[5] 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[6].

In this hereditary disease, little treatment is afforded that is succesful and euthanasiz of severely affected calves is recommended.


  1. Han S et al (2008) Segregation of type I collagen homo- and heterotrimers in fibrils. J Mol Biol 383(1):122-132
  2. Huq NL et al (2005) Association of bovine dentine phosphophoryn with collagen fragments. Arch Oral Biol 50(9):807-819
  3. Shapiro JR et al (1995) OIM and related animal models of osteogenesis imperfecta. Connect Tissue Res 31(4):265-268
  4. Agerholm JS et al (1994) Osteogenesis imperfecta in Holstein-Friesian calves. Zentralbl Veterinarmed A 41(2):128-138
  5. Fisher LW et al (1987) Two bovine models of osteogenesis imperfecta exhibit decreased apatite crystal size. Calcif Tissue Int 40(5):282-285
  6. Agerholm JS et al (1993) Investigations on the occurrence of hereditary diseases in the Danish cattle population 1989-1991. Acta Vet Scand 34(3):245-253