Spondyloepimetaphyseal dysplasia - Strudwick type

Case contributed by Yaïr Glick
Diagnosis probable

Presentation

None provided.

Patient Data

Age: 3.5 years
Gender: Male

Delayed epiphyseal ossification of many bones, including carpals, metacarpal heads, and femoral heads.

Metaphyseal cupping with irregular borders in the metacarpals, femoral heads and condyles, and tibial plateaus and plafonds.

Irregular acetabular borders and bilateral coxa vara.

Case Discussion

Features most compatible with spondyloepimetaphyseal dysplasia, Strudwick type, an autosomally inherited type II collagenopathy.

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