Monday, July 25, 2016

Musculoskeletal I


This child's deformities involve the proximal bones more than the distal ones. He also has macrocephaly and midface hypoplasia.

Challenge: What autosomal dominant disorder is seen here?

Image shown under Fair Use.

2 comments:

Anonymous said...

Achondroplasia

Craig Chen said...

well done!
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Musculoskeletal I

This is achondroplasia. The radiograph shows squaring of the iliac wings, flattening of the acetabular angles (yellow arrows), genu varum (white arrows), and wide but short femurs (green arrow).

Source: UpToDate; LearningRadiology.