Publication: Bruck Syndrome: A Rare Disorder in New-Born with Fractures and Contractures
Date
2017
Journal Title
Journal ISSN
Volume Title
Publisher
Nepal Paediatric Society (JNPS)
Abstract
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.
Description
Suraj Dhaubhadel
National Academy of Medical Sciences (NAMS), Kanti Children's Hospital, Nepal
Bimala Baniya
National Academy of Medical Sciences (NAMS), Kanti Children’s Hospital
Hema Joshi
National Academy of Medical Sciences (NAMS), Kanti Children’s Hospital
Ram Hari Chapagain
National Academy of Medical Sciences (NAMS), Kanti Children’s Hospital
Krishna Prasad Paudel
National Academy of Medical Sciences (NAMS), Kanti Children’s Hospital
Keywords
Arthrogryposis, Osteogenesis imperfecta, Bruck syndrome, Neonate, FKBP10 gene