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Lookup NU author(s): Dr Michael Wright
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Multiple epiphyseal dysplasia (MED) is characterized by pain and stiffness in joints and delayed and irregular ossification of epiphyses. Causative mutations have been recognized in six different genes. We have identified disease-causing mutations in the gene encoding matrilin-3, an extracellular matrix protein, in seven families with autosomal dominant MED. Review of the clinical and radiographic features in 12 of the affected family members shows a uniform pattern of skeletal anomalies in all patients with considerable degree of variability in severity, both between and within families. The characteristic clinical findings are onset of symptoms in early childhood with predominance of knee and hip related complaints, normal stature, and early-onset osteoarthritis. Radiographs show small and irregular epiphyses and mild metaphyseal irregularities and striations, especially at the knees and hips and mild spinal changes. Despite overlap, both clinically and radiographically, with other forms of MED, the described features may help to differentiate this particular form from other entities within the MED spectrum. © 2003 Wiley-Liss, Inc.
Author(s): Makitie O, Mortier GR, Czarny-Ratajczak M, Wright MJ, Suri M, Rogala P, Freund M, Jackson GC, Jakkula E, Ala-Kokko L, Briggs MD, Cole WG
Publication type: Article
Publication status: Published
Journal: American Journal of Medical Genetics Part A
Year: 2004
Volume: 125
Issue: 3
Pages: 278-284
ISSN (print): 1552-4825
ISSN (electronic): 1552-4833
Publisher: John Wiley & Sons, Inc.
URL: http://dx.doi.org/10.1002/ajmg.a.20486
DOI: 10.1002/ajmg.a.20486
PubMed id: 14994237
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