title: 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.affiliation: Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel; Medical Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
authors.forename: Allen L
authors.initials: AL
authors.lastname: Pimienta
authors.forename: William R
authors.initials: WR
authors.lastname: Wilcox
authors.forename: Eyal
authors.initials: E
authors.lastname: Reinstein
mesh_terms: D051722:ADAM Proteins / Q000235:genetics*; D000071096:ADAMTS Proteins; D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D009154:Mutation; D057089:Pathology, Molecular; D010641:Phenotype; D056846:Weill-Marchesani Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D055815:Young Adult
chemical_list: D051722:ADAM Proteins; D000071096:ADAMTS Proteins; C494614:ADAMTS10 protein, human
keywords: Weill-Marchesani syndrome; evolving phenotype; geleophysic dysplasia