Presentation
Dysmorphic.
Patient Data
Age: 2 years
Gender: Male
From the case:
Achondroplasia
{"current_user":null,"step_through_annotations":true,"access":{"can_edit":false,"can_download":true,"can_toggle_annotations":true,"can_feature":false,"can_pin":false},"extraPropsURL":"/studies/7443/annotated_viewer_json?iframe=true\u0026lang=us"}
The skull vault is enlarged, with small skull base.
There is exacerbation of the lumbar-sacral angle and the interpedicular distance gradually diminishes in the lumbar spine. The iliac wings are vertical.
The limbs demonstrate normal density with marked shortening of the long bones.
From the case:
Achondroplasia
{"current_user":null,"step_through_annotations":true,"access":{"can_edit":false,"can_download":true,"can_toggle_annotations":true,"can_feature":false,"can_pin":false},"extraPropsURL":"/studies/7444/annotated_viewer_json?iframe=true\u0026lang=us"}
CT images of the base of skull demonstrate marked stenosis of the foramen magnum.
Case Discussion
Characteristic features of achondroplasia.