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?
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I put together these medical challenges. The cases are hypothetical and do not necessarily represent actual or typical presentations of medical diseases. Disclaimer is at the bottom of this page.
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2 comments:
Achondroplasia
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.
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