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

S., Dhaubhadel; R. H., Chapagain; B., Baniya; H., Joshi; K. P., Paudel

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.

NEONATAL diseases; BONE abnormalities; ARTHROGRYPOSIS

Journal of Nepal Paediatric Society, 2017, Vol 37, Issue 3, p276

1990-7974

Academic Journal

10.3126/jnps.v37i3.18103