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

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.

• Authors: Allen L Pimienta, William R Wilcox, Eyal Reinstein
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 161A Issue 12 Pg. 3126-9 (Dec 2013) ISSN: 1552-4833 [Electronic] United States
• PMID: 24039088 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2013 Wiley Periodicals, Inc.

Chemical References

• ADAM Proteins
• ADAMTS Proteins
• ADAMTS10 protein, human

Topics

• ADAM Proteins (genetics)
• ADAMTS Proteins
• Adolescent
• Bone Diseases, Developmental (diagnosis, genetics, physiopathology)
• Child
• Child, Preschool
• Diagnosis, Differential
• Eye Abnormalities (genetics, physiopathology)
• Female
• Humans
• Infant
• Infant, Newborn
• Limb Deformities, Congenital (diagnosis, genetics, physiopathology)
• Mutation
• Pathology, Molecular
• Phenotype
• Weill-Marchesani Syndrome (diagnosis, genetics, physiopathology)
• Young Adult