multiple epiphyseal dysplasia

·      disturbance of ossification of many epiphyses

epidemiology

·      one of more common dysplasias

·      heterogenous with spectrum of involvement

·      mild form (Ribbing)

·      severe form (Fairbank)

·      autosomal dominant

pathology

·      disturbance of enchondral ossification in epiphyseal and physeal region

·      deficient proliferative region

·      tongue-like projections of cartilage into metaphysis

clinical

·      varies in severity

·      may present with

·      problems walking in childhood

·      premature osteoarthritis in adulthood

·      most commonly affects

·      hips

·      knees

·      ankles

·      commonly see

·      prominent joints

·      angular deformities

·      flexion contractures

·      digits shortened

·      mild shortness of stature

radiology

·      joint involvement symmetrical

·      epiphyseal ossification delayed

·      epiphyses appear fragmented

·      joint surfaces flattened and irregular

·      leads to premature osteoarthritis

Hip

·      most frequently and severely involved

·      small irregular and fragmented capital epiphyses

·      progressive flattening and extrusion of femoral head

·      premature osteoarthritis

·      may be superimposed osteonecrosis of femoral head

·      often confused with bilateral Perthes’ disease

Knee

·      femoral condyles flattened and rectangular

·      genu valgum common

orthopaedic complications
Premature osteoarthritis

·      valgus intertrochanteric osteotomy for hip

·      supracondylar osteotomy for knee

·      arthroplasty of hip or knee