Lethal osteogenesis imperfecta and skin fragility in newborn New Zealand Romney lambs

Abstract

Osteogenesis imperfecta and skin fragility occurred in about 50 New Zealand Romney lambs born in a flock of 450 ewes. Affected lambs had soft bones and multiple intrauterine bone fractures. Long bones had a thickened diaphysis with almost complete absence of a medullary cavity. Other consistent gross findings were moderate brachynathia inferior, subcutaneous oedema, marked joint laxity, dark blue sclera and small pink teeth. Histopathologic and ultra- structural changes were consistent with a defect in collagen production by fibroblasts. DNA finger-printing was used to identify which of the five rams used in the flock was carrying the genetic defect. The disease was inherited as an autosomal dominant trait and was considered to be a new mutation in the testicular germ cell lines of this ram.