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Achondroplasia

Case contributed by Brendon Friesen
Diagnosis almost certain

Patient Data

Age: 2 months
Gender: Male
x-ray
  • pelvis: narrow sacrosciatic notches and flattened acetabular roofs.
  • lateral lumbosacral: nearly horizontal sacrum.
  • trident hand, diffuse brachydactyly.
  • short femur, flared distal femoral metaphysis.

Case Discussion

Classic features of achondroplasia, the most common type of dwarfism compatible with life.

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