Multiple epiphyseal dysplasia

Case contributed by Dr Ammar Haouimi

Presentation

Valgus knee deformity. Three of the siblings have the same disease.

Patient Data

Age: 12 years
Gender: Male
X-ray

The full-length weight-bearing and AP (hip, knee, and ankle) radiographs demonstrate:

  • full-length weight-bearing radiograph
    • valgus knee deformity: the hip-knee-ankle angle (after correction) was a 1° on the right and 5° on the left
  • hip
    • bilateral acetabular dysplasia
    • small femoral epiphyses
    • irregular ossification centers of the greater trochanters
    • shortening with enlargement of the femoral neck
  • knee
    • ​valgus left knee
    • small ossification centers of the patellae with probably a double-layered patellae
    • small and irregular tibial and fibular epiphyses
    • hypoplasia of the lateral femoral condyles
    • thinning of the lateral femoral epiphyses with irregular contours
  • ankle
    • small and irregular tibial and fibular epiphyses 
    • flattening with irregularity of the talar dome bilaterally

Case Discussion

Irregular and delayed ossification of multiple epiphyses with associated genu valgus in a patient with three of the siblings have the same anomalies are suggestive of Multiple epiphyseal dysplasias. 

Multiple epiphyseal dysplasia also known as dysplasia epiphyseal multiplex or Fairbank disease) is inherited in an autosomal dominant pattern characterized by flattening and fragmentation of epiphyses.

 

Additional contributor: ZE. Boudiaf, MD

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Case information

rID: 82966
Published: 17th Oct 2020
Last edited: 19th Oct 2020
Inclusion in quiz mode: Included
Institution: Aurès Medical Imaging Center - Batna Algeria

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