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Spinal Deformity in Marfan Syndrome (MFS)

  • Nanjundappa S. Harshavardhana
  • Mohammed H. H. Noordeen
Chapter

Abstract

Marfan syndrome (MFS) is an inherited connective tissue disorder characterised by a mutation involving the Fibrillin (FBN) gene. It is transmitted as autosomal dominant trait with complete penetrance and variable expressivity. The diagnosis is largely clinical guided by Ghent nosology and is characterized by cardinal features that affect predominantly affects three systems: i) Musculoskeletal, ii) Ocular and iii) Cardiovascular.Scoliosis is the most common musculoskeletal manifestation in MFS. Inaddition affected patients may also have basilar impression, cervical kyphosis, dural ectasia, spondylolisthesis and low bone mineral density (BMD). This chapter provides a comprehensive summary of spinal deformities seen in MFS and its treatment thereof. The surgical management of scoliosis that is refractory to non-operative treatment modalities is influenced by age at presentation and the severity of the deformity. Growth guided surgery is recommended for neonatal, infantile and juvenile MFS whilst an instrumented posterior spinal fusion is undertaken for adolescent and adult scoliosis. Magnet-driven growing rods (MdGR) are an attractive novel implant that addresses the early-onset spinal deformity of MFS.

Keywords

Dural ectasia Ghent nosology Growing rods Magnet-driven growing rod (MdGR) Rapid prototyping technology (RPT) Scoliosis Spinal fusion Spondylolisthesis 

Notes

Acknowledgements

The authors would like to acknowledge Dr. JH Perra, MD, FACS – Attending spinal surgeon; Twin Cities Spine Center and Gillette Children’s Specialty Healthcare – Minneapolis, MN, U.S.A for providing us with the pictures of the rapid prototyping (RP) model and 3D-CT images of a congenital spinal deformity (Fig. 12.1).

Conflict of Interest (CoI)

  1. 1.

    NS Harshavardhana: No relationships

     
  2. 2.
    Mohammed H. H. Noordeen:
    • Ellipse Tech, Inc. – Consultant and stockholder

    • K2M – Consultant

    • Stryker Spine – Research and educational support (no period)

     

Authorship Contribution Statement

The two authors (i.e. NSH and MHHN) jointly wrote and made substantial contributions in drafting the outline for the chapter. The clinical case example radiographs are from patients operated upon by MHHN. Both the authors read and approved the final draft of the submitted manuscript. We take full responsibility for the contents of this publication, attesting to both its accuracy and integrity, and we agree to be accountable for all aspects of the work.

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Copyright information

© Springer-Verlag London 2016

Authors and Affiliations

  • Nanjundappa S. Harshavardhana
    • 1
  • Mohammed H. H. Noordeen
    • 2
  1. 1.Department of Spinal Surgery, Spinal Deformity Unit (SDU)Royal National Orthopaedic HospitalLondonUK
  2. 2.Department of Trauma and Orthopaedic Surgery, Spinal Deformity Unit (SDU)Royal National Orthopaedic HospitalLondonUK

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