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Virtual Pediatric Hospital: Paediapaedia: Achondroplasia Paediapaedia: Musculoskeletal Diseases

Achondroplasia

Michael P. D'Alessandro, M.D.
Peer Review Status: Internally Peer Reviewed


Clinical Presentation:
Short stature. Has mild hypotonia and slow motor development but eventually has normal intelligence and motor function. Narrowing of the foramen magnum can cause hydrocephalus, and cord compression is another possible symptom. Most common short limbed dwarf.

Etiology/Pathophysiology:
Disorder of tubular bone growth. Autosomal dominant.

Pathology:
Not applicable

Imaging Findings:
Rhizomelic limb shortening is seen. On plain film see short tubular bones with normal width and shortening of humerus compared to radius and ulna with flared metaphyses. Pelvis has a "champagne glass" appearance with square iliacs bones, broad flat acetabular roofs, and a small sciatic notch. Decreased distance between pedicles in lumbar spine is noted as you descend through it. The pedicles are shortened. Vertebral bodies are normal height but have concave posterior border. There is a large calvarium with prominent frontoparietal and occipital regions with a short skull base and mid face hypoplasia.

DDX:

References:
See References Chapter.

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