The Hip: Preservation, Replacement and Revision

Multiple Epiphyseal Dysplasia


- Discussion:
    - multiple epiphyseal dysplasia (a common type of osteochondrodysplasia) is characterized by disturbance of normal
          ossification w/ in epiphysis;
          - pathologic abnormality is a disturbance in enchondral ossification of epiphyses and physes;
    - is inherited as an autosomal dominant trait with variable expressivity;
    - disorder is manifested as multiple areas of abnormal growth and ossification of the epiphysis;
    - dz tends to be bilaterally symmetrical and to affect predominantly hips, knees, ankles, and wrists;
    - irregularities of joint surfaces often lead to degenerative arthritis, w/ significant disability by third or fourth decade;
    - diminution in stature is present although not severe, ranges from 145 to 170 cm in adults;
    - not often manifestated until age 5-14 yr;
    - hips, knees, & ankles are affected primarily;
    - COMP is defective in multiple epiphyseal dysplasia; 

- Diff Dx:

- Radiographs:
    - milder form (Ribbing) and a more severe form (Faibank) exist;
          - diagnosis is based on radiographic characteristics;
    - in severe type of this disorder, the epiphyseal ossification centers are small and frequently fragmented;
    - irregular and/or delayed ossification at multiple epiphyses
    - ossific centers appear late and are fragmented and irregular;

- Clinical Manifestations:

    - spine:
              - T12/L1 notching and deformed ring apophysis;
    - shoulders:
              - up to 1/3 can expect to have shoulder symptoms sometime during their lives;
              - many will remain asymptomatic until middle age, when DJD
               causes bilateral symmetric pain with minimal loss of motion;
    - hands:
              - short, stunted metacarpals/metatarsals;

    - hips:
              - irregular femora which is bilateral and symmetric, is not assoc w/  metaphyseal cysts, and commonly has early acetabular changes;
                      - coxa vara may occur;

                       

    - knees:
              - genu valgum is common (consider early osteotomy);
              - abnormal normal ossification (tibial "slant sign")
              - flattened femoral condyles

   - ankles:  


References

Early diagnosis of Multiple Epiphyseal Dysplasia.     

Avascular necrosis of the hip in Multiple Epiphyseal Dysplasia

Development of the hip in multiple epiphyseal dysplasia. Natural history and susceptibility to premature osteoarthritis.



Original Text by Clifford R. Wheeless, III, MD.

Last updated by Data Trace Staff on Wednesday, July 6, 2016 3:36 am