CTICasesGeliophysic Dysplasia
Imaging findings
High-resolution chest CT shows mosaic attenuation indicating irregular perfusion, with several pulmonary artery branches tapering to occlusion. The patient also has a heavily calcified, thickened bicuspid aortic valve with severe aortic stenosis.
Key takeaways
Geliophysic dysplasia is a rare autosomal dominant lysosomal storage-like skeletal dysplasia characterized by short stature, short hands and feet, facial abnormalities, and severe progressive cardiac valvular disease (stenosis of the aortic or mitral valves). It can also be associated with branch pulmonary artery stenosis and resulting pulmonary hypertension.
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