- 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;
- 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:
Early diagnosis of Multiple Epiphyseal Dysplasia.
Ingram, R.R., Journal of Pediatric Orthopedics 1992; 12: 241-244.
Avascular necrosis of the hip in Multiple Epiphyseal Dysplasia.
Mackenzie, W.G., Basset, G.S., Mandell, G.A., Scott, C.I.
Journal of Pediatric Orthopedics. 1990; 9: 666-671.
Development of the hip in Multiple Epiphyseal Dysplasia.
Treble,N.J.,Jensen,F.O.,Bankier,A.,Rogers,J.G.,Cole,W,G.
JBJS. 1990; 72-B: 1061-1064.
