Multiple epiphyseal dysplasia (MED)
Objectives- Describe clinical features suggestive of MED
- Describe orthopaedic problems related to MED
- Describe a method of obtaining immediate further information on the osteochondrodysplasias
Discussion
Multiple epiphyseal dysplasia is the most common of the osteochondrodysplasias. Although disorders of the skeleton have fascinated scientists and artists for centuries, the first attempt to systematically classify the osteochondrodysplasias was Sir Thomas Fairbank's atlas in 1951. Since that time, a number of efforts have been published, and constantly revised as new information becomes available, from structural, ultrastructural, and genetic research. The latest effort was by an international working group in 1997, and the emphasis was shifted from the former radiodiagnostic and morphologic criteria to a present etiopathogenetic basis. The interested student of this subject can access up to date information through the availability of On-Line Mendelian Inheritance in Man (OMIN) through the internet (http:// www3. ncbi. nlm. nih. gov/ Omin), and through the International Skeletal Dysplasia Web site (http:// www. csms. edu/ genetics/ skeledys).
The multiple epiphyseal dysplasias are still recognized by that name, but do comprise several entities with intermediate forms; a milder type (Ribbing) and a more severe type (Fairbanks). A third chromosomal locus for the multiple epiphyseal dysplasias was recently located. The transmission is autosomal dominant. Patients with MED may be of normal or short stature, radiographic findings in the wrists and hands have been found to correlate with stature. The hips are most often involved. The epiphyses of the long bones appear late and present an irregular, mottled, flattened appearance. Genu varum or valgum is common. The spine is minimally involved.
From an orthopaedic perspective, children with MED may present as having mild delay in walking, stiffness, or pain, pain usually does not occur until the second decade. The femoral epiphyseal radiographic changes may be confused with Legg-Perthes disease. Realignment procedures of the hip or knee may be of benefit in better distributing weightbearing forces. Arthroplasty is the only option for late cases with established degenerative changes.
References
- Anonymous. International nomenclature and classification of the osteochondrodysplasias (1997). International Working Group on Constitutional Diseases of Bone. American Journal of Medical Genetics 1998; 79( 5): 376-82.
- Bassett GS. The osteochondrodysplasias. In: Morrissy RT, Weinstein SL, editors. Pediatric Orthopaedics. Philadelphia: Lippincott-Raven; 1996. p. 203-49.
- Crossan JF, Wynne-Davies R, Fulford GE. Bilateral failure of the capital femoral epiphysis: bilateral Perthes disease, multiple epiphyseal dysplasia, pseudoachondroplasia, and spondyloepiphyseal dysplasia congenita and tarda. Journal of Pediatric Orthopedics 1983; 3( 3): 297-301.
- Deere M, Blanton SH, Scott CI, Langer LO, Pauli RM, Hecht JT. Genetic heterogeneity in multiple epiphyseal dysplasia. American Journal of Human Genetics 1995; 56( 3): 698-704.
- Haga N, Nakamura K, Takikawa K, Manabe N, Ikegawa S, Kimizuka M. Stature and severity in multiple epiphyseal dysplasia. Journal of Pediatric Orthopedics 1998; 18( 3): 394-7.
- Horan F, Beighton P. Orthopaedic problems in inherited skeletal disorders. Berlin: Springer-Verlag; 1982.
- Mackenzie WG, Bassett GS, Mandell GA, Scott CI, Jr. Avascular necrosis of the hip in multiple epiphyseal dysplasia. Journal of Pediatric Orthopedics 1989; 9( 6): 666-71.
- Paassilta P, Lohiniva J, Annunen S, Bonaventure J, Le Merrer M, Pai
L, et al. COL9A3: A third locus for multiple epiphyseal dysplasia
[published erratum appears in Am J Hum Genet
1999 Oct; 65( 4): 1214]. American Journal of Human Genetics 1999; 64( 4): 1036-44.
- Rimoin DL. Molecular defects in the chondrodysplasias. American Journal of Medical Genetics 1996; 63( 1): 106-10.
- Treble NJ, Jensen FO, Bankier A, Rogers JG, Cole WG. Development of the hip in multiple epiphyseal dysplasia. Natural history and susceptibility to premature osteoarthritis. Journal of Bone & Joint Surgery -British Volume 1990; 72( 6): 1061-4.
- van Mourik J, Weerdenburg H. Radiographic anthropometry in patients with multiple epiphyseal dysplasia. AJR. American Journal of Roentgenology 1997; 169( 4): 1105-8.
May 16-19, 2012 in Denver, CO
