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Case ReportCASE REPORTS AND CLINICAL OBSERVATIONS
Open Access

A Rare Case of Bruck Syndrome Type 2 in Siblings With Broad Phenotypic Variability

Lindsey Luce, Michael Casale and Sean Waldron
Ochsner Journal June 2020, 20 (2) 204-208; DOI: https://doi.org/10.31486/toj.18.0145
Lindsey Luce
1Department of Orthopedic Surgery, Medical University of South Carolina, Charleston, SC
MBBS
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Michael Casale
2Department of Orthopedic Surgery, Ochsner Clinic Foundation, New Orleans, LA
3The University of Queensland Faculty of Medicine, Ochsner Clinical School, New Orleans, LA
MD
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Sean Waldron
2Department of Orthopedic Surgery, Ochsner Clinic Foundation, New Orleans, LA
3The University of Queensland Faculty of Medicine, Ochsner Clinical School, New Orleans, LA
MD
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  • For correspondence: sean.waldron@ochsner.org
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REFERENCES

  1. 1.↵
    1. Kelley BP,
    2. Malfait F,
    3. Bonafe L,
    4. et al.
    Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res. 2011 Mar;26(3):666-672. doi: 10.1002/jbmr.250.
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    1. Breslau-Siderius EJ,
    2. Engelbert RH,
    3. Pals G,
    4. van der Sluijs JA
    . Bruck syndrome: a rare combination of bone fragility and multiple congenital joint contractures. J Pediatr Orthop B. 1998 Jan;7(1):35-38. doi: 10.1097/01202412-199801000-00006.
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  3. 3.↵
    1. Schwarze U,
    2. Cundy T,
    3. Pyott SM,
    4. et al.
    Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. Hum Mol Genet. 2013 Jan 1;22(1):1-17. doi: 10.1093/hmg/dds371.
    OpenUrlCrossRefPubMedWeb of Science
  4. 4.↵
    1. Ha-Vinh R,
    2. Alanay Y,
    3. Bank RA,
    4. 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 A. 2004 Dec 1;131(2):115-120. doi: 10.1002/ajmg.a.30231.
    OpenUrlCrossRefPubMed
  5. 5.↵
    1. Puig-Hervás MT,
    2. Temtamy S,
    3. Aglan M,
    4. et al.
    Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome–osteogenesis imperfecta phenotypic spectrum. Hum Mutat. 2012 Oct;33(10):1444-1449. doi: 10.1002/humu.22133.
    OpenUrlCrossRefPubMed
  6. 6.↵
    1. Shaheen R,
    2. Al-Owain M,
    3. Faqeih E,
    4. et al.
    Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. Am J Med Genet A. 2011 Jun;155A(6):1448-1452. doi: 10.1002/ajmg.a.34025.
    OpenUrlCrossRef
  7. 7.↵
    1. Mokete L,
    2. Robertson A,
    3. Viljoen D,
    4. Beighton P
    . Bruck syndrome: congenital joint contractures with bone fragility. J Orthop Sci. 2005 Nov;10(6):641-646. doi: 10.1007/s00776-005-0958-9.
    OpenUrlCrossRefPubMed
  8. 8.↵
    1. Blacksin MF,
    2. Pletcher BA,
    3. David M
    . Osteogenesis imperfecta with joint contractures: Bruck syndrome. Pediatr Radiol. 1998 Feb;28(2):117-119. doi: 10.1007/s002470050309.
    OpenUrlCrossRefPubMed
  9. 9.↵
    1. Mughal MZ
    . Fractures in children with cerebral palsy. Curr Osteoporos Rep. 2014 Sep;12(3):313-318. doi: 10.1007/s11914-014-0224-1.
    OpenUrlCrossRefPubMed
  10. 10.↵
    1. Otaify GA,
    2. Aglan MS,
    3. Ibrahim MM,
    4. Elnashar M,
    5. El Banna RA,
    6. Temtamy SA
    . Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study. Osteoporos Int. 2016 Jan;27(1):81-92. doi: 10.1007/s00198-015-3216-9.
    OpenUrlCrossRef
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A Rare Case of Bruck Syndrome Type 2 in Siblings With Broad Phenotypic Variability
Lindsey Luce, Michael Casale, Sean Waldron
Ochsner Journal Jun 2020, 20 (2) 204-208; DOI: 10.31486/toj.18.0145

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A Rare Case of Bruck Syndrome Type 2 in Siblings With Broad Phenotypic Variability
Lindsey Luce, Michael Casale, Sean Waldron
Ochsner Journal Jun 2020, 20 (2) 204-208; DOI: 10.31486/toj.18.0145
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