Osteogenesis and dentinogenesis imperfecta in a four‐month‐old English mastiff

Abstract

Osteogenesis imperfecta, also known as ‘brittle bone disease’, is an inherited connective tissue disorder caused by defects in type 1 collagen. The disease results in low bone mass and reduced bone strength, often manifesting as multiple intrauterine fractures, skeletal abnormalities and death before adulthood. A four-month-old, female entire, English mastiff was presented for multiple limb fractures. Due to a poor prognosis, euthanasia was elected. Gross examination revealed diffuse osteopenia with multiple chronic and acute skeletal fractures. All adult teeth were undersized and opalescent, and multiple deciduous incisors were retained. Histopathology of the long bones demonstrated severe, diffuse osteopenia with retention of non-ossified cartilage spicules in the secondary spongiosa. The incisor teeth had multifocal disorganisation of odontoblasts and ameloblasts that exhibited piling (dysplasia) and hypoplasia of the dentin. Diagnoses of osteogenesis imperfecta and dentinogenesis imperfecta were made. Osteogenesis imperfecta should be considered as a cause of diffuse osteopenia in young dogs.

Long-term follow-up of a cat with an undetermined osteoporotic bone disease managed with multiple intramedullary pins

“… 12 , 13 Previous histopathological studies of OI found thin trabeculae of woven bone with microfractures, few osteocytes, an absence of secondary spongiosa and osteoblasts containing cytoplasmic vacuoles. 1 , 9 , 11 The patient in the present study showed similar histopathological results and a tentative diagnosis of OI was made after excluding other possible diseases with similar clinical signs.Owing to the poor prognosis, euthanasia is performed in most patients with OI after diagnosis. 1 , 11 Even with surgical repair in a male kitten with suspected OI, which is described in a separate report, the owner went on to elect euthanasia after further fractures were found.…”

“…Owing to the poor prognosis, euthanasia is performed in most patients with OI after diagnosis. 1,11 Even with surgical repair in a male kitten with suspected OI, which is described in a separate report, the owner went on to elect euthanasia after further fractures were found. 14 Unlike veterinary medicine, various treatments, including surgical repair, are carried out in human medicine to improve quality of life.…”

“…6,7 However, owing to poor prognosis, euthanasia is often elected in veterinary medicine. 1 Thus, this case report aims to describe the long-term Long-term follow-up of a cat with an undetermined osteoporotic bone disease managed with multiple intramedullary pins management of suspected OI by surgical repair using intramedullary pins in a cat.…”

“…Pathological fracture leading to bone abnormalities can occur due to primary hyperparathyroidism, nutritional or renal secondary hyperparathyroidism, and osteogenesis imperfecta (OI). 1 OI is a genetic disorder caused by mutation of COL1A1 or COL1A2 that leads to defects in type 1 collagen synthesis. Clinical signs of OI include malunion of bones during growth and repeated fractures causing limb deformity, often accompanied by blue sclera and dentinogenesis imperfecta.…”

Osteogenesis Imperfecta in Two Finnish Lapphund Puppies

“…In addition, there was delayed dentition with the dentin layer being subjectively thin, similar to the OI identified in Dachshunds and other breeds. 17,28,[36][37][38] Retrognathism, identified in both puppies, is rare among canine OI case reports, but not uncommon in humans, suggesting a possible difference in presentation in Finnish Lapphund dogs. 39,40 Complete blood cell count, serum chemistry and thyroid hormone testing was performed to assess any abnormalities that might be related to this disorder, and most strikingly there was no rise in alkaline phosphatase enzyme activity typical of puppies undergoing rapid bone turnover, while serum phosphorus was elevated which is typically observed in growing dogs.…”