Article
Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report.
BMC musculoskeletal disorders - 3 Jun 2010
Hinrichs Timo, Superti-Furga Andrea, Scheiderer Wolf-Dieter, Bonafé Luisa, Brenner Rolf E, Mattes Thomas
Abstract excerpt
BACKGROUND: Multiple epiphyseal dysplasia (MED) is one of the more common generalised skeletal dysplasias. Due to its clinical heterogeneity diagnosis may be difficult. Mutations of at least six separate genes can cause MED. Joint deformities, joint pain and gait disorders are common symptoms. CASE PRESENTATION: We report on a 27-year-old male patient suffering from clinical symptoms of autosomal recessive MED...
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