Skip to main content

Advertisement

SpringerLink
Log in

Marshall–Smith syndrome

  • 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

References

  1. Williams DK, Carlton DR, Green SH, Pearman K, Cole TRP . Marshall-Smith syndrome: the expanding phenotype. J Med Genet 1997; 34: 842–845.

    Article  CAS  Google Scholar 

  2. Eich GF, Silver MS, Weksberg R, Daneman A, Costa T . Marshall-Smith syndrome: new radiographic, clinical and pathologic observations. Radiology 1991; 181: 183–188.

    Article  CAS  Google Scholar 

  3. Passalacqua C, Melo C, Martin LM, Rojas F, Sanz P, Taucher SC et al. Pigmentary skin defect is a new finding in Marshall Smith syndrome. Am J Med Genet A 2011; 2015–2017.

    Article  Google Scholar 

  4. Adams MP, Hennekam RCM, Keppen LD, Bull MJ, Clericuzio CL, Burke LW et al. Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. Am J Med Genet 2005; 137A: 117–124.

    Article  Google Scholar 

  5. Sperli D, Concolino D, Barbato C, Strisciuglio P, Andria G . Long term survival of a patient with Marshall-Smith syndrome with respiratory complications. J Med Genet 1993; 30: 877–879.

    Article  CAS  Google Scholar 

  6. Rennie CA, Chowdhury S, Khan J, Rajan F, Jordan K, Lamb RJ et al. The prevalence and associated features of posterior embryotoxon in the general ophthalmologic population. Eye 2005; 19: 396–399.

    Article  CAS  Google Scholar 

  7. Stringer MD, Ceylan H, Ward K, Wyatt JI . Gallbladder polyps in children—classification and management. J Pediatr Surg 2003; 38: 1680–1684.

    Article  Google Scholar 

  8. Shaw AC, van Balkom IDC, Bauer M, Cole TRP, Delruge MA, Van Haeringen A et al. Phenotype and natural history in Marshall-Smith syndrome. Am J Med Genet 2010; 152A: 2714–2726.

    Article  Google Scholar 

  9. Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S et al. Weaver syndrome and EZH2 mutations: clarifying the phenotype. Am J Med Genet 2013; 161A: 2972–2980.

    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

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Herman, T., Siegel, M. Marshall–Smith syndrome. J Perinatol 35, 307–309 (2015). https://doi.org/10.1038/jp.2014.224

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/jp.2014.224

  • Springer Nature America, Inc.

Search

Navigation