Skip to main content
SpringerLink
Log in
Book cover

Atlas of Genetic Diagnosis and Counseling pp 1–13Cite as

Spondyloepiphyseal Dysplasia

  • Living reference work entry
  • First Online:

Abstract

Spondyloepiphyseal dysplasia (SED) refers to a group of disorders with primary involvement of the vertebrae and epiphyseal centers resulting in a short-trunk disproportionate dwarfism. Two major types (congenita and tarda) will be discussed here.

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

References

  • Augenstein, K. B., Ward, M. J., & Nelson, V. S. (1996). Spondyloepiphyseal dysplasia congenita with ventilator dependence: Two case reports. Archives of Physical Medicine and Rehabilitation, 77, 1201–1204.

    Article  CAS  PubMed  Google Scholar 

  • Bannerman, R. M., Ingall, G. B., & Mohn, J. F. (1971). X-linked spondyloepiphyseal dysplasia tarda: Clinical and linkage data. Journal of Medical Genetics, 8, 291–301.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Chan, D., Taylor, T. K. F., & Cole, W. G. (1993). Characterization of an arginine 789 to cysteine substitution in alpha1(II) collagen chains of a patient with spondyloepiphyseal dysplasia. The Journal of Biological Chemistry, 268, 15238–15245.

    CAS  PubMed  Google Scholar 

  • Chan, D., Rogers, J. F., Bateman, J. F., et al. (1995). Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita. The Journal of Rheumatology. Supplement, 43, 37–38.

    CAS  PubMed  Google Scholar 

  • Choi, M. Y., Chan, C. C. Y., Chan, D., et al. (2009). Biochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda. Biochemical Journal, 423, 323–342.

    Article  Google Scholar 

  • Christie, P. T., Curley, A., Nesbit, M. A., et al. (2001). Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda. Journal of Clinical Endocrinology and Metabolism, 86, 3233–3236.

    CAS  PubMed  Google Scholar 

  • Cole, W. G., Hall, R. K., & Rogers, J. G. (1993). The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen. Journal of Medical Genetics, 30, 27–35.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Dahiya, R., Cleveland, S., & Megerian, C. A. (2000). Spondyloepiphyseal dysplasia congenita associated with conductive hearing loss. Ear, Nose, & Throat Journal, 79, 178–182.

    CAS  Google Scholar 

  • Diamond, L. S. (1970). A family study of spondyloepiphyseal dysplasia. Journal of Bone Joint and Surgery (America), 52, 1587–1594.

    CAS  Google Scholar 

  • Gedeon, A. K., Colley, A., Jamieson, R., et al. (1999). Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nature Genetics, 22, 400–404.

    Article  CAS  PubMed  Google Scholar 

  • Gedeon, A. K., Tiller, G. E., Le Merrer, M., et al. (2001). The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. American Journal of Human Genetics, 68, 1386–1397.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Grunebaum, E., Arpaia, E., MacKenzie, J. J., et al. (2001). A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree. Journal of Medical Genetics, 38, 409–411.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Harding, C. O., Green, C. G., Perloff, W. H., et al. (1990). Respiratory complications in children with spondyloepiphyseal dysplasia congenita. Pediatric Pulmonology, 9, 49–54.

    Article  CAS  PubMed  Google Scholar 

  • Heuertz, S., Smahi, A., Wilkie, A. O., et al. (1995). Genetic mapping of Xp22.12-p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL). Human Genetics, 96, 407–410.

    Article  CAS  PubMed  Google Scholar 

  • James, P. A., Shaw, J., du Sart, D., et al. (2003). Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia. Prenatal Diagnosis, 23, 861–863.

    Article  PubMed  Google Scholar 

  • Kozlowski, K., Masel, J., & Nolte, K. (1977). Dysplasia spondylo-epiphysealis congenita Springer-Wiedemann. A critical analysis. Australasian Radiology, 2, 260–280.

    Article  Google Scholar 

  • Langer, L. O., Jr. (1964). Spondyloepiphyseal dysplasia tarda: Hereditary chondrodysplasia with characteristic vertebral configuration in the adult. Radiology, 82, 833–839.

    Article  PubMed  Google Scholar 

  • Lee, B., Vissing, H., Ramirez, F., et al. (1989). Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. Science, 244, 978–980.

    Article  CAS  PubMed  Google Scholar 

  • MacKenzie, J. J., Fitzpatrick, J., Babyn, P., et al. (1996). X linked spondyloepiphyseal dysplasia: A clinical, radiological, and molecular study of a large kindred. Journal of Medical Genetics, 33, 823–828.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Macpherson, R. I., & Wood, B. P. (1980). Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism. Pediatric Radiology, 9, 217–224.

    Article  CAS  PubMed  Google Scholar 

  • Naumoff, P. (1977). Thoracic dysplasia in spondyloepiphyseal dysplasia congenita. American Journal of Diseases of Children, 131, 653–654.

    CAS  PubMed  Google Scholar 

  • Parikh, S. N. (2013). Spondyloepiphyseal dysplasia. eMedicine from WebMD. Updated November 25, 2013. http://emedicine.medscape.com/article/1260836-overview.

  • Reardon, W., Hall, C. M., Shaw, D. G., et al. (1994). New autosomal dominant form of spondyloepiphyseal dysplasia presenting with atlanto-axial instability. American Journal of Medical Genetics, 52, 432–437.

    Article  CAS  PubMed  Google Scholar 

  • Savarirayan, R., Thompson, E., & Gecz, J. (2003). Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). European Journal of Human Genetics, 11, 639–642.

    Article  CAS  PubMed  Google Scholar 

  • Spranger, J. W., & Langer, L. O., Jr. (1970). Spondyloepiphyseal dysplasia congenita. Radiology, 94, 313–322.

    Article  CAS  PubMed  Google Scholar 

  • Spranger, J. W., & Langer, L. O., Jr. (1974). Spondyloepiphyseal dysplasias. Birth Defects Original Article Series, X(9), 19–61.

    Google Scholar 

  • Tiller, G. E., & Hannig, V. L. (2011). X-linked Spondyloepiphyseal dysplasia tarda. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1145/. Retrieved 15 Feb 2011.

  • Tiller, G. E., Weis, M. A., Polumbo, P. A., et al. (1995). An RNA-splicing mutation (G + 5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita. American Journal of Human Genetics, 56, 388–395.

    PubMed Central  CAS  PubMed  Google Scholar 

  • Turner, L. M., & Steffensen, T. S. (2010). Spondyloepiphyseal dysplasia congenita. Fetal and Pediatric Pathology, 29, 57–62.

    Article  PubMed  Google Scholar 

  • Whyte, M. P., Gottesman, G. S., Eddy, M. C., et al. (1999). X-linked recessive spondyloepiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature. Medicine (Baltimore), 78, 9–25.

    Article  CAS  Google Scholar 

  • Yang, S. S., Chen, H., Williams, P., et al. (1980). Spondyloepiphyseal dysplasia congenita. A comparative study of chondrocytic inclusions. Archives of Pathology and Laboratory Medicine, 104, 208–211.

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Shreveport, LA, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

Authors
  1. Harold Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Harold Chen .

Rights and permissions

Reprints and permissions

Copyright information

© 2015 Springer Science+Business Media New York

About this entry

Cite this entry

Chen, H. (2015). Spondyloepiphyseal Dysplasia. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_222-2

Download citation

  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_222-2

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

  • eBook Packages: Springer Reference Biomedicine and Life SciencesReference Module Biomedical and Life Sciences

Publish with us

Policies and ethics

Search

Navigation