Dhaubhadel, SurajBaniya, BimalaJoshi, HemaChapagain, Ram HariPaudel, Krishna Prasad2026-01-232026-01-232017https://hdl.handle.net/20.500.14572/4346Suraj 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 HospitalAbstract: 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.en-USArthrogryposisOsteogenesis imperfectaBruck syndromeNeonateFKBP10 geneArticle