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

  • 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

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.

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Author Biographies

Suraj Dhaubhadel, National Academy of Medical Sciences (NAMS), Kanti Children's Hospital, Nepal
MD Resident,Pediatric department,
Bimala Baniya, National Academy of Medical Sciences (NAMS), Kanti Children’s Hospital
Resident
Hema Joshi, National Academy of Medical Sciences (NAMS), Kanti Children’s Hospital
Resident
Ram Hari Chapagain, National Academy of Medical Sciences (NAMS), Kanti Children’s Hospital
Assistant Professor
Krishna Prasad Paudel, National Academy of Medical Sciences (NAMS), Kanti Children’s Hospital
Associate Professor
Published
2018-06-07
How to Cite
Dhaubhadel, S., Baniya, B., Joshi, H., Chapagain, R., & Paudel, K. (2018). Bruck Syndrome: A Rare Disorder in New-Born with Fractures and Contractures. Journal of Nepal Paediatric Society, 37(3), 276-279. https://doi.org/10.3126/jnps.v37i3.18103
Section
Case Reports