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Discussion
- multiple epiphyseal dysplasia (a common type of osteochondrodysplasia) is characterized by disturbance of normal
ossification w/ in epiphysis;
- 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 - collagen type IX is defective in multiple epiphyseal dysplasia;
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;
knees
- genu valgum is common (consider early osteotomy);
- abnormal normal ossification (tibial "slant sign")
- flattened femoral condyles
ankles
References