Skip to main content

Advertisement

SpringerLink
Log in

Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation

  • Case Report
  • Published:
Pediatric Radiology Aims and scope Submit manuscript

Abstract

Spondylocarpotarsal synostosis syndrome (SSS) is a rare autosomal recessive condition characterized primarily by vertebral malsegmentation, carpal/tarsal coalition, and a dysmorphic appearance. Differentiating SSS from other congenital scoliosis syndromes requires evaluation of the vertebrae, ribs, soft tissues, and spinal cord. The enhanced resolution over plain radiographs seen with MRI allows more detailed assessment of vertebral malformation and surrounding anatomy. Diagnosis of the underlying cause of congenital scoliosis might be enhanced using this technology. We report on a 12-year-old girl of unaffected parents with SSS who was evaluated with MRI sequences of the spine to show various types of malsegmentation. Additionally, there is the new finding of fusion of teeth, with developmental failure of a canine incisor.

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

Fig. 1
Fig. 2
Fig. 3

Similar content being viewed by others

References

  1. Behrman RE, Kliegman R, Jenson HB (2004) Nelson textbook of pediatrics, 17th edn. Saunders, Philadelphia, pp 2280–2289

    Google Scholar 

  2. Grainger RG, Allison DJ (2001) Diagnostic radiology: a textbook of medical imaging, 4th edn. Churchill Livingstone, London, New York, pp 2463–2468

    Google Scholar 

  3. Jones KL, Guthrie RD, Smith DW (1973) Case report 8. Syndrome Identification I:10–11

    Google Scholar 

  4. Steiner C, Ehtesham N, Taylor KD, et al (2004) A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14. J Med Genet 41:266–269

    Article  PubMed  CAS  Google Scholar 

  5. Kaissi Al A, Ghachem MB, Nassib N, et al (2005) Spondylocarpotarsal synostosis syndrome (with a posterior midline unsegmented bar). Skeletal Radiol 34:364–366

    Article  PubMed  Google Scholar 

  6. Coelho KE, Ramos ES, Felix TM, et al (1998) Three new cases of spondylocarpotarsal synostosis syndrome: clinical and radiographic studies. Am J Med Genet 77:12–15

    Article  PubMed  CAS  Google Scholar 

  7. Honeywell C, Langer L, Allanson J (2002) Spondylocarpotarsal synostosis with epiphyseal dysplasia. Am J Med Genet 109:318–322

    Article  PubMed  Google Scholar 

  8. Seaver LH, Boyd E (2000) Spondylocarpotarsal synostosis syndrome and cervical instability. Am J Med Genet 91:340–344

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Medical Imaging, University of Saskatchewan, Saskatoon, S7N 0W8, Saskatchewan, Canada

    Magnus Breitling & Michael Rabin

  2. Division of Medical Genetics, Department of Pediatrics, University of Saskatchewan, Saskatoon, Canada

    Edmond G. Lemire

Authors
  1. Magnus Breitling
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Edmond G. Lemire
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Michael Rabin
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Michael Rabin.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Breitling, M., Lemire, E.G. & Rabin, M. Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation. Pediatr Radiol 36, 866–869 (2006). https://doi.org/10.1007/s00247-006-0181-7

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00247-006-0181-7

Keywords

Search

Navigation