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

Authors

  • 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

DOI:

https://doi.org/10.3126/jnps.v37i3.18103

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

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Published

2018-06-07

How to Cite

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

Issue

Vol. 37 No. 3 (2017)

Section

Case Reports

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