title: Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.
abstract: Multiple epiphyseal dysplasia is one of the more common skeletal dysplasias but it can still be difficult to diagnose. The presenting signs are often rheumatological ('joint pain') or neurological ('myopathy') in nature, and the cardinal feature of skeletal dysplasia (short stature) may not be present. A radiographic skeletal survey is necessary to delineate the pattern of generalized delayed epiphyseal ossification and changes in epiphyseal contour. Once the diagnosis of multiple epiphyseal dysplasia has been established, careful examination of the radiographs can help to determine which genes should be analysed. Mutations in at least six different genes can cause multiple epiphyseal dysplasia, and it can be either dominant or recessive. Molecular diagnosis is important for accurate prognosis and genetic counselling.
authors.affiliation: Department of Paediatrics and Institute of Human Genetics, University of Freiburg, Freiburg, Germany.
authors.forename: Sheila
authors.initials: S
authors.lastname: Unger
authors.forename: Luisa
authors.initials: L
authors.lastname: Bonafé
authors.forename: Andrea
authors.initials: A
authors.lastname: Superti-Furga
mesh_terms: D027321:Anion Transport Proteins / Q000235:genetics; D064236:Cartilage Oligomeric Matrix Protein; D024081:Collagen Type IX / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D064235:Matrilin Proteins; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D000076988:Sulfate Transporters
chemical_list: D027321:Anion Transport Proteins; C439970:COL9A1 protein, human; C120282:COL9A2 protein, human; C120768:COL9A3 protein, human; D064236:Cartilage Oligomeric Matrix Protein; D024081:Collagen Type IX; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C089651:SLC26A2 protein, human; D000076988:Sulfate Transporters; C577553:TSP5 protein, human