Volume 7 | Issue 3 | September-December 2021 | Page: 29-34 | Gaurav Gupta, Qaisur Rabbi, Maulin Shah, Vikas Bohra
Authors: Deepika A. Pinto MS DNB Orth. , Sandeep V. Vaidya MS DNB Orth. 
 Department of Paediatric Orthopaedics, Pinnacle Ortho Center, LBS Road, Thane West, Maharashtra, India.
Address of Correspondence
Dr. Deepika A. Pinto,
Clinical Associate in Paediatric Orthopaedics, Pinnacle Ortho Center, LBS Road, Thane West, Maharashtra, India.
Background: Bruck syndrome is a disorder in which features of osteogenesis imperfecta and arthrogryposis multiplex congenita coexist. It is an extremely rare condition with less than 40 cases reported worldwide.
Case presentation: We describe the case of a girl child, born of a consanguineous marriage, who, at birth, was noted to have flexion contractures of both knees and elbows as well as right clubfoot. Post-natally, she developed repetitive fractures of both femurs occurring with trivial trauma. She presented to us at the age 8.5 years, with short stature and inability to stand due to the severe knee flexion contractures. She also had flexion contractures at bilateral elbows. Intelligence and fine motor skills were normal. Sclerae, teeth and hearing were also normal. Radiographs revealed osteoporosis, severely deformed femora and vertebral body flattening. A diagnosis of Bruck syndrome was made on the basis of clinical findings. Genetic testing was offered, but declined by the child’s parents. She has since undergone osteotomies and rodding for both femurs, and bilateral distal femoral anterior hemi-epiphysiodesis for gradual correction of knee contractures. She is on cyclical pamidronate therapy to address bone fragility.
Conclusion: In this report, we describe the diagnostic features and management of this rare syndrome, and provide a summary of the existing literature on the disorder.
Keywords: Bruck syndrome, Osteogenesis imperfecta, Arthrogryposis, Congenital joint contractures, Bone fragility
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|How to Cite this Article: Pinto AD, Vaidya SV | Bruck Syndrome (Bone Fragility with Congenital Joint Contractures): A Case Report. | September-December 2021; 7(3): 29-34.|