E. Pimienta and W. Wilcox contributed equally to this work.
More than meets the eye: The evolving phenotype of Weill–Marchesani syndrome—diagnostic confusion with geleophysic dysplasia
Article first published online: 16 AUG 2013
© 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 12, pages 3126–3129, December 2013
How to Cite
2013. More than meets the eye: The evolving phenotype of Weill–Marchesani syndrome—Diagnostic confusion with geleophysic dysplasia. Am J Med Genet Part A 161A:3126–3129., , .
Conflict of interest: none.
- Issue published online: 19 NOV 2013
- Article first published online: 16 AUG 2013
- Manuscript Accepted: 11 JUL 2013
- Manuscript Received: 30 JUN 2013
- Dr. Reinstein's Rambam Atidim Academic Excellence Program
- Weill–Marchesani syndrome;
- geleophysic dysplasia;
- evolving phenotype
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.