Bruck Syndrome (Bone Fragility with Congenital Joint Contractures): A Case Report
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
1. Orpha.net. Bruck Syndrome. https://www.orpha.net/consor/cgibin/OC_Exp.php?lng=en&Expert=2771 Accessed 24th July 2020.
2. Sharma NL, Anand JS. Osteogenesis Imperfecta with Arthrogryposis Multiplex Congenita. J Indian Med Assoc. 1964;43:124–6.
3. Datta V, Sinha A, Saili A, Nangia S. Bruck syndrome. Indian J Pediatr. 2005;72(5):441–2.
4. Viljoen D, Versfeld G, Beighton P. Osteogenesis imperfecta with congenital joint contractures (Bruck Syndrome). Clin Genet. 1989;36(2):122–6.
5. Ha-Vinh R, Alanay Y, Bank RA, Campos-Xavier AB, Zankl A, Superti-Furga A, et al. Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. Am J Med Genet Part A. 2004;131A(2):115–20.
6. van der Slot AJ, Zuurmond A-M, Bardoel AFJ, Wijmenga C, Pruijs HEH, Sillence DO, et al. Identification of PLOD2 as Telopeptide Lysyl Hydroxylase, an Important Enzyme in Fibrosis. J Biol Chem. 2003;278(42):40967–72.
7. Shaheen R, Al-Owain M, Faqeih E, Al-Hashmi N, Awaji A, Al-Zayed Z, et al. Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. Am J Med Genet Part A. 2011;155(6):1448–52.
8. Bank RA, Robins SP, Wijmenga C, Breslau-Siderius LJ, Bardoel AFJ, Van der Sluijs HA, et al. Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: Indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17. Proc Natl Acad Sci. 1999;96(3):1054–8.
9. Mokete L, Robertson A, Viljoen D, Beighton P. Bruck syndrome: congenital joint contractures with bone fragility. J Orthop Sci. 2005;10(6):641–6.
10. Breslau-Siderius EJ, Engelbert RHB, Pals G, van der Sluijs JA. Bruck syndrome: a rare combination of bone fragility and multiple congenital joint contractures. J Pediatr Orthop B. 1998;7(1):35–8.
11. Moravej H, Karamifar H, Karamizadeh Z, Amirhakimi G, Atashi S, Nasirabadi S. Bruck syndrome – a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation. Endokrynol Pol. 2015;66(2):170–4.
12. Luce L, Casale M, Waldron S. A Rare Case of Bruck Syndrome Type 2 in Siblings With Broad Phenotypic Variability. Ochsner J. 2020;20(2):204–8.
13. Puig-Hervás MT, Temtamy S, Aglan M, Valencia M, Martínez-Glez V, Ballesta-Martínez MJ, et al. Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum. Hum Mutat. 2012;33(10):1444–9.
14. Boyce AM, Gafni RI. Approach to the Child with Fractures. J Clin Endocrinol Metab. 2011;96(7):1943–52.
15. Alman B, Goldberg MJ. Syndromes of Orthopaedic Importance. In: Lowell and Winter’s Pediatric Orthopaedics. 7th ed. Lippincott Williams & Wilkins; 2014. p. 266.
16. Otaify GA, Aglan MS, Ibrahim MM, Elnashar M, El Banna RAS, Temtamy SA. Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study. Osteoporos Int. 2016;27(1):81–92.
17. Santana A, Oleas-Santillán G, Franzone JM, Nichols LR, Bowen JR, Kruse RW. Orthopedic Manifestations of Bruck Syndrome: A Case Series with Intermediate to Long-term Follow-Up. Case Rep Orthop. 2019;2019:8014038.
|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.|