Get access

More than meets the eye: The evolving phenotype of Weill–Marchesani syndrome—diagnostic confusion with geleophysic dysplasia

Authors

  • Allen L. Pimienta,

    1. Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel
    2. Medical Genetics Institute, Rambam Health Care Campus, Haifa, Israel
    Search for more papers by this author
    • E. Pimienta and W. Wilcox contributed equally to this work.
  • William R. Wilcox,

    1. Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California
    Search for more papers by this author
    • E. Pimienta and W. Wilcox contributed equally to this work.
  • Eyal Reinstein

    Corresponding author
    1. Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel
    2. Medical Genetics Institute, Rambam Health Care Campus, Haifa, Israel
    • Correspondence to:

      Eyal Reinstein, M.D., Ph.D., Medical Genetics Institute, Rambam Health Care Campus, Haifa 31096, Israel.

      E-mail: e_reinstein@rambam.health.gov.il

    Search for more papers by this author

  • Conflict of interest: none.

Abstract

The criteria for diagnosing and distinguishing between Weill–Marchesani syndrome (WMS) and geleophysic dysplasia (GD) are inexact and often overlap. We report the clinical findings and evolving phenotype for a period of 18 years in a patient whose diagnosis, and distinguishing characteristics, transformed from GD to WMS. Molecular testing demonstrated novel mutations in the ADAMTS10 gene confirming a diagnosis of autosomal recessive WMS in the proposita. We further report on phenotypic features not classically linked to WMS. These findings indicate that the Weill–Marchesani phenotype may be developed and is not always apparent in early childhood. © 2013 Wiley Periodicals, Inc.

Ancillary