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.
© 2013 Wiley Periodicals, Inc.
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