Bruck syndrome

Definition:

Bruck syndrome is a recessively-inherited form of osteogenesis imperfecta in combination with pterygium formation across large joints. In Bruck syndrome, joint mobility is significantly reduced, showing arthrogryposis multiplex congenita.

References:

[1]. Ranad Shaheen, et al. Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. Am J Med Genet A. 2011 Jun;155A(6):1448-52. [Content Brief]

[2]. Russia Ha-Vinh, et al. Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. Am J Med Genet A. 2004 Dec 1;131(2):115-20. [Content Brief]

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