Presentation
Short stature.
Patient Data
Age: 4 years
Gender: Male
From the case:
Spondyloepiphyseal dysplasia
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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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