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

Am J Med Genet A. 2013 Dec;161A(12):3126-9. doi: 10.1002/ajmg.a.36161. Epub 2013 Aug 16.

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.

Keywords: Weill-Marchesani syndrome; evolving phenotype; geleophysic dysplasia.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

  • ADAM Proteins
  • ADAMTS Proteins
  • ADAMTS10 protein, human

Supplementary concepts

  • Acromicric dysplasia