Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): Review and report on the first North American case

Bruck syndrome is a very rare autosomal recessive syndrome consisting of bone fragility and congenital joint contractures. It is considered as a combination of arthrogryposis multiplex congenita and osteogenesis imperfecta, while some consider it as the autosomal recessive variant of osteogenesis imperfecta. According to the genotype, it has been classified into types 1 and 2. To our knowledge, only about 28 patients of this syndrome have been reported so far worldwide with none been reported from Nepal. Here, we present a patient with generalized osteopenia, bilateral femur fracture and congenital joint contractures of distal extremities.

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Defective collagen fibril formation and mineralization in osteogenesis imperfecta with congenital joint contractures (Bruck syndrome)

European Journal of Pediatrics ◽

10.1007/bf01955060 ◽

1993 ◽

Vol 152 (6) ◽

pp. 505-508 ◽

Cited By ~ 33

Author(s):

R. E. Brenner ◽

U. Vetter ◽

H. Stöss ◽

P. K. Müller ◽

W. M. Teller

Keyword(s):

Osteogenesis Imperfecta ◽

Collagen Fibril ◽

Fibril Formation ◽

Joint Contractures ◽

Bruck Syndrome

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Osteogenesis imperfecta with congenital joint contractures (Bruck Syndrome)

Clinical Genetics ◽

10.1111/j.1399-0004.1989.tb03174.x ◽

2008 ◽

Vol 36 (2) ◽

pp. 122-126 ◽

Cited By ~ 43

Author(s):

Denis Viljoen ◽

Gerry Versfeld ◽

Peter Beighton

Keyword(s):

Osteogenesis Imperfecta ◽

Joint Contractures ◽

Bruck Syndrome

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Transactions in science in comparative perspective

Voprosy Ekonomiki ◽

10.32609/0042-8736-2018-9-52-69 ◽

2018 ◽

pp. 52-69

Author(s):

A. N. Oleinik

Keyword(s):

Transaction Costs ◽

Academic Freedom ◽

North American ◽

Institutional Environment ◽

Scientific Productivity ◽

Institutional Environments ◽

Academic Administrator ◽

The North ◽

American Case ◽

Transactional Approach

The article develops a transactional approach to studying science. Two concepts play a particularly important role: the institutional environment of science and scientific transaction. As an example, the North-American and Russian institutional environments of science are compared. It is shown that structures of scientific transactions (between peers, between the scholar and the academic administrator, between the professor and the student), transaction costs and the scope of academic freedom differ in these two cases. Transaction costs are non-zero in both cases, however. At the same time, it is hypothesized that a greater scope of academic freedom in the North American case may be a factor contributing to a higher scientific productivity.

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