J Korean Orthop Assoc.
1998 Feb;33(1):186-190.
Four Cases of Multiple Epiphyseal Dysplasia in One Family
Abstract
- The clinical entity of Dysplasia Epiphyseal Multiplex was first descrihed by Fairbank in 1935, characterized by the disturbance of endochondral ossification in hoth epiphyseal centers and regions of physeal growth. It manifests itself radiologically as late appearance and mottling of the ossification centers and clinically as short stature, stubby digits and painful stiffness of multiple joints. It is typically transmitted as an autosomal dominant trait though recessive forms have been described. The spine is normal apart from a mild increased lumbar lordosis. Many patients are referred to an orthopaedic surgeon for bilateral Perthes disease, as was one of the authors cases. This Paper reports four cases of multiple epiphyseal dysplasia which affected one family.
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Radiologic findings of epiphyseal metaphyseal dysplasia developed in one family
- Multiple epiphyseal dysplasia in one family
- Multiple Epiphyseal Dysplasia: Report of 2 Cases
- A Novel COMP Gene Mutation in a Korean Kindred with Multiple Epiphyseal Dysplasia
- Autosomal Recessive Multiple Epiphyseal Dysplasia in a Korean Girl Caused by Novel Compound Heterozygous Mutations in the DTDST (SLC26A2) Gene
