Skip to main content

Advertisement

SpringerLink
Log in

Thanatophoric dysplasia, type I

  • Imaging Case Report
  • Published:
Journal of Perinatology Submit manuscript

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

Figure 1
Figure 2
Figure 3
Figure 4

References

  1. Victoria T, Bebbington M, Wilson RD, Epelman MS, Johnson MP, Jaramillo D . Antenatal skeletal evaluation – the use of low dose CT in the diagnosis of skeletal dysplasia. Ultrasound Obstet Gynecol 2009; 34 (S1): 112.

    Article  Google Scholar 

  2. Huda W, Randazzo W, Tipnis S, Frey GD, Mah E . Embryo dose estimates in body CT. AJR Am J Roentgenol 2010; 194: 874–880.

    Article  Google Scholar 

  3. Jaffe TA, Yoshizumi TT, Toncheva GI, Nguyen G, Hurwitz LM, Nelson RC . Early first-trimester fetal radiation dose estimation in 16-MDCT without and with automated tube current modulation. AJR Am J Roentgenol 2008; 190: 860–864.

    Article  Google Scholar 

  4. McCollough CH, Schueler BA, Atwell TD, Braun NN, Regner DM, Brown DL et al. Radiation exposure and pregnancy: when should we be concerned? Radiographics 2007; 27: 909–917; discussion 917–918.

    Article  Google Scholar 

  5. Horton WA, Rimoin DL, Hollister DW, Lachman RS . Further heterogeneity within lethal neonatal short-limbed dwarfism: the platyspondylic types. J Pediatr 1979; 94: 736–742.

    Article  CAS  Google Scholar 

  6. Kitoh H, Lachman RS, Brodie SG, Mekikian PB, Rimoin DL, Wilcox WR . Extra pelvic ossification centers in thanatophoric dyspasia and PLSD Sandiego type. Pediatr Radiol 1998; 28: 759–763.

    Article  CAS  Google Scholar 

  7. Neumann L, Kunze J, Uhl M, Stöver B, Zabel B, Spranger J . Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type. Pediatr Radiol 2003; 33: 786–790.

    Article  Google Scholar 

  8. Nisimura G, Nakashima E, Mabuchi A, Shimamoto K, Shimamoto T, Shimao Y et al. Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type. J Med Genet 2004; 41: 75–79.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, MO, USA

    T E Herman & M J Siegel

Authors
  1. T E Herman
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. M J Siegel
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to T E Herman.

Ethics declarations

Competing interests

The authors declare no conflict of interest.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Herman, T., Siegel, M. Thanatophoric dysplasia, type I. J Perinatol 32, 476–478 (2012). https://doi.org/10.1038/jp.2011.108

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/jp.2011.108

  • Springer Nature America, Inc.

Search

Navigation