Skip to main content
SpringerLink
Log in

The Management of Kyphosis in Metatropic Dysplasia

  • Published:
Spine Deformity Aims and scope Submit manuscript

Abstract

Design

Retrospective review.

Objective

To describe the presentation and progression, and compare treatments of severe thoracic kyphosis in a cohort of patients with metatropic dysplasia.

Summary of Background Data

Metatropic dysplasia is a rare skeletal dysplasia characterized by several abnormalities, including severe platyspondyly and vertebral wedging. These lead to marked kyphoscoliosis that begins in the first year of life and progresses to a stiff, short thorax and restrictive lung disease. There is no study that specifically addresses treatment of kyphosis in this cohort.

Methods

A 12-year retrospective chart review at a single institution was performed to identify metatropic dysplasia patients. Comparison between four main treatment groups—observation, bracing, anterior release and growing construct, and anterior release and final fusion—were made radiographically with regard to thoracolumbar, T2–T12, and major Cobb kyphosis; sagittal vertical alignment; and C7–kyphosis apex distance, taken at presentation, pre- and posttreatment, and final follow-up.

Results

Twenty patients with metatropic dysplasia presented at an average age of 3.1 years with a kyphosis of 75°, and were followed an average of 8.5 years. Those treated surgically presented with an average of 86.7° kyphosis, 88 mm C7—kyphosis apex distance, and 50 mm positive sagittal vertical alignment (SVA). Postsurgical reduction of kyphosis averaged 43° with less than 4° loss of correction in all groups except the constructs involving rib fixation. Recent use of staged thoracoscopic anterior soft tissue release, halo traction, and growing rod construct has produced the most dramatic results with average kyphosis correction of 71° and evidence of anterior bony remodeling. In those treated with observation, kyphosis progressed less than a quarter degree per year.

Conclusions

Thoracic kyphosis in metatropic dysplasia does not uniformly progress in all patients and therefore can be initially observed. In those who progress, several surgical options exist including growth-friendly constructs that have demonstrated success without a higher rate of complications.

Level of Evidence

Level IV.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Maroteaux P, Spranger J, Wiedemann HR. Der metatropische Zwergwuchs [metatropic dwarfism]. Arch Kinderheilkd 1966;173:211–26.

    CAS  PubMed  Google Scholar 

  2. Beck M, Roubicek M, Rogers JG, et al. Heterogeneity of metatropic dysplasia. Eur J Pediatr 1983;140:231–7.

    Article  CAS  Google Scholar 

  3. Kozlowski K, Campbell J, Anderson B, et al. Metatropic dysplasia and its variants (analysis of 14 cases). Australas Radiol 1988;32:325–37.

    Article  CAS  Google Scholar 

  4. Krakow D, Vriens J, Camacho N, et al. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 Produce spondylome-taphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet 2009;84:307–15.

    Article  CAS  Google Scholar 

  5. Dai J, Kim OH, Cho TJ, et al. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. J Med Genet 2010;47:704–9.

    Article  CAS  Google Scholar 

  6. Nishimura G, Lausch E, Svarirayan R, et al. TRPV4–associated skeletal dysplasias. Am J Med Genet C Semin Med Genet 2012; 160C: 190–204.

    Article  Google Scholar 

  7. Hurd L, Kirwin SM, Boggs M, et al. A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia. Am J Med Genet A 2015;167:2286–93.

    Article  CAS  Google Scholar 

  8. Boden SD, Kaplan FS, Fallon MD, et al. Metatropic dwarfism. Uncoupling of endochondral and perichondral growth. J Bone Joint Surg Am 1987;69:174–84.

    Article  CAS  Google Scholar 

  9. Kannu P, Aftimos S, Mayne V, et al. Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history. Am J Med Genet A 2007;143:2512–22.

    Article  Google Scholar 

  10. Henginer RN. Kyphosis secondary to skeletal dysplasias and metabolic disease. Clin Orthop Relat Res 1977;128:113–28.

    Google Scholar 

  11. Kopits SE. Orthopaedic complications of dwarfism. Clin Orthop Relat Res 1976;114:153–79.

    Google Scholar 

  12. Rimoin DL, Siggers DC, Lachman RS, et al. Metatropic dwarfism, the Kniest syndrome and pseudoachondroplastic dysplasia. Clin Orthop Relat Res 1976;114:70–82.

    Google Scholar 

  13. Genevieve D, Le Merrer M, Feingold J, et al. Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature. Am J Med Genet A 2008;146:992–6.

    Article  Google Scholar 

  14. Andreucci E, Aftimos S, Alcausin M, et al. TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted by clinica, radiographic, and molecular studies in 21 new families. Orphanet J Rare Dis 2011;6:37.

    Article  Google Scholar 

  15. Shohat M, Lachman R, Rimoin DL. Odontoid hypoplasia with vertebral cervical subluxation and ventriculomegaly in metatropic dysplasia. J Pediatr 1989;114:239–43.

    Article  CAS  Google Scholar 

  16. Leet AI, Sampath JS, Scott Jr CI, MacKenzie WG. Cervical spinal stenosis in metatropic dysplasia. J Pediatr Orthop 2006;26: 347–52.

    Article  Google Scholar 

  17. Johnston CE. Scoliosis in metatropic dwarfism. Orthopaedics 1983;6: 491–8.

    CAS  Google Scholar 

  18. Bethem D, Winter RB, Lutter L, et al. Spinal disorders of dwarfism. Review of the literature and report of eighty cases. J Bone Joint Surg Am 1981;63:1412–25.

    Article  CAS  Google Scholar 

  19. Pourtaheri S, Shah SA, Ditro CP, et al. Preoperative halo-gravity traction with and without thoracoscopic anterior release for skeletal dysplasia patients with severe kyphoscoliosis. J Child Orthop 2016;10:135–42.

    Article  Google Scholar 

  20. Karatas AF, Dede O, Rogers K, et al. Growth-sparing spinal instrumentation in skeletal dysplasia. Spine 2013;38:E1517–28.

    Article  Google Scholar 

  21. Boseker EH, Moe JH, Winter RB, et al. Determination of “normal” thoracic kyphosis: a roentgenographic study of 121 “normal” children. J Pediatr Orthop 2000;20:796–8.

    Article  CAS  Google Scholar 

  22. Carman DL, Browne RH, Birch JG. Measurement of scoliosis and kyphosis radiographs. Intraobserver and interobserver variation. J Bone Joint Surg Am 1990;72:328–33.

    Article  CAS  Google Scholar 

  23. Ohrt-Nissen S, Cheung JPY, Hallanger DW, et al. Reproducibility of thoracic kyphosis measurements in patients with adolescent idiopathic scoliosis. Scoliosis Spinal Disord 2017;12:4.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Seattle Children’s Hospital, 4800 Sand Point Way NE, M/S OA.9.120, 98105, Seattle, WA, USA

    Jennifer M. Bauer MD, MS

  2. Department of Orthopedics and Sports Medicine, University of Washington, 1959 NE. Pacific St., Box 356500, 98195-6500, Seattle, WA, USA

    Jennifer M. Bauer MD, MS

  3. Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Rd, 19803, Wilmington, DE, USA

    Colleen P. Ditro DNP, CPNP & William G. Mackenzie MD

Authors
  1. Jennifer M. Bauer MD, MS
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Colleen P. Ditro DNP, CPNP
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. William G. Mackenzie MD
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Jennifer M. Bauer MD, MS.

Additional information

Author disclosures: JMB (none), CPD (none), WGM (none).

IRB approval: This paper was approved by the Institutional Review Board of Nemours AI duPont Hospital for Children.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Bauer, J.M., Ditro, C.P. & Mackenzie, W.G. The Management of Kyphosis in Metatropic Dysplasia. Spine Deform 7, 494–500 (2019). https://doi.org/10.1016/j.jspd.2018.09.007

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1016/j.jspd.2018.09.007

Keywords

Search

Navigation