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Case of the Week 591



What is the most likely diagnosis?

  • 6 year-old male of short stature



Frontal Radiograph Pelvis and Femurs

  1. Panhypopituitarism
  2. Hypothyroidism
  3. Achondroplasia
  4. Congenital Hip Dysplasia
  5. Blount's Disease

Additional image - None

 

 

Additional Images

 


None


Answer:

 

3. Achondroplasia

 

More (Click Discussion Tab)

 

 

Achondroplasia

 

General Considerations

  • Autosomal dominant or sporadic mutation disorder of abnormal enchondral bone ossification
  • Most common form of short-limbed dwarfism (less than 3rd percentile in standing height)
  •  In achondroplasia, the extremity involvement is rhizomelic (i.e. proximal) so that the humerus and femur are more involved than the radius and tibia.

MORE . . .

 


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LearningRadiology.com
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