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Figure A
16%
390/2404
Figure B
4%
90/2404
Figure C
6%
151/2404
Figure D
10%
236/2404
Figure E
63%
1515/2404
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Activating missense mutations in the GNAS1 gene encoding the Gs-alpha subunit of the G-protein family of receptors is associated with polyostotic fibrous dysplasia. This is shown by the proximal femur/acetabular "ground glass" lesions in Figure E. Leet et al evaluated the functional and diagnostic features of these children and found that loss of femoral neck-shaft angle and involvement of the lower extremities had the greatest impact on function. Bianco et al discuss the other implications of G-protein coupled receptor mutations outside of their effect on skeletal development. Incorrect Answers: Figure A represents an adamantinoma of the tibia. Figure B shows the spickeled calcification of an enchondroma. Figure C shows a destructive giant cell tumor of bone. Figure D shows the "flowing wax" of melorheostosis.
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