The multiple epiphyseal dysplasias are a genetically heterogeneous group of disorders characterized by epiphyseal changes of variable severity. Mutations in collagen IX, cartilage oligomeric matrix protein (COMP
Robert D. SteinerDepartment of Pediatrics, Washington University School of Medicine, St. Louis, MissouriWilliam H. McAlisterDepartment of Radiology, Washington University School of Medicine, St. Louis, MissouriMichael P. WhyteMetabolic Research Unit, Shriners Hospital for Children, St. Louis, Missouri ...
Some mutations in COMP can lead to a form of multiple epiphyseal dysplasia (MED; MIM 132400), a milder form of the skeletal dysplasia. MED has also been associated with mutations in the genes coding for a1, a2, and a3 chains of collagen IX, SLC26A2 and matrilin-3 (Chapman et al. ...
Dysplasia Epiphysealis Hemimelica (Trevor Disease) A rare variant of osteochondroma that occurs in the epiphysis. Histologically identical to an osteochondroma and also has a 3:1 male predominance. Multiple bone involvement is seen in 65% of patients, typically unilateral, with the knee and ankle ...
This overview covers the group of disorders that presents radiographically as multiple epiphyseal dysplasia (MED). The disorders include "classic MED" (Ribbing and Fairbank types): MED that is caused by mutations in the cartilage oligomeric matrix protein (COMP), type IX collagen, and matrilin 3...
Considering the history, radiology, and genetic findings, a diagnosis of spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) was considered. Further neurological examination indicated that severe spinal cord compression was an important reason for the patient's inability to walk. ...
They are a genetically heterogeneous group of disorders.1,2 A recently delineated form is SEMD with multiple dislocations (MIM 603546).3 This is characterised by a generalised epiphyseal dysplasia, gracile metacarpals, a small carpus, and mild platyspondyly with vertebral end plate irregularity. ...
Later, in the 1900s, MHE was differentiated from other disorders, such as Ollier disease (multiple enchondromatosis) and Trevor disease (dysplasia epiphysealis hemimelica). MHE is known by other names including hereditary multiple osteochondromas, diaphyseal aclasis, hereditary deforming ...
This is an exceedingly rare autosomal recessive multisystem disorder characterized by intrauterine growth retardation, early infantile permanent diabetes mellitus, multiple epiphyseal dysplasia, renal impairment, central hypothyroidism, developmental delay, and recurrent episodes of hepatic dysfunction, ascribed to...
Lesions typically emerge from the juxta-epiphyseal anatomical areas of long bones. As a result, this phenomenon leads to orthopedic abnormalities. On rare occasions, they result in sarcomatous transformation. In turn, Osteochondroma is identified as a bony exostosis with a cartilaginous cap. It ...