Spondyloepiphyseal dysplasia

Presentation

Short stature.

Patient Data

Age: 4 years
Gender: Male
X-ray

Irregular epiphyses and apophyses of femoral heads and acetabulae .

Case Discussion

Spondyloepiphyseal dysplasia in a child who presented with short stature. Radiograph of the pelvis including femora shows irregular ossification of the heads and greater trochanters of the femora. In addition, there is irregular ossification of acetabula. Additional findings of the same nature in knees and ankles (not shown). Spine shows rectangular vertebrae (not shown).

This is a rare type of skeletal dysplasia. The differential diagnosis includes:

  • congenital hypothyroidism (cretinism)  
  • chondrodysplasia calcificans congenita 
  • mother on anticoagulant therapy
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Case information

rID: 39770
Case created: 19th Sep 2015
Last edited: 13th Feb 2016
Inclusion in quiz mode: Included

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