Bruck Syndrome: A Rare Disorder in New-Born with Fractures and Contractures

Suraj Dhaubhadel, Bimala Baniya, Hema Joshi, Ram Hari Chapagain, Krishna Prasad Paudel

Abstract

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.

Keywords

Arthrogryposis; Osteogenesis imperfecta; Bruck syndrome; Neonate; FKBP10 gene

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DOI: http://dx.doi.org/10.3126/jnps.v37i3.18103

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Copyright (c) 2017 Suraj Dhaubhadel, Bimala Baniya, Hema Joshi, Ram Hari Chapagain, Krishna Prasad Paudel

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