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Old 05-14-2012
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Question Activation of FGFR-3 Effects on Bones!

A gnetic study shows activation of FGFR-3 on chromosome 4 in a 22-year tall male with disproportional short upper and lower extremities, depression nasal and prominent forehead. Which of the following should be a major factor in this patient abnormaly?

A) Defective mineralization of osteoid due to decreased in Vit-D
B) High serum Ca++ low serum PHO4
C) Carbonic anhydrase II deficiency and cerebral calcification
D) Abnormal regulation sex steroid hormone in growth plate
E) Increases bone resorption due to abnormal estrogen levels
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Old 05-15-2012
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D.........?
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Old 05-15-2012
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FGFR 3 mutation is associated with achondroplasia... but they are supposed to be short !!!!
m stumped.... but i would guess B...
?
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it is D I think
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Old 05-15-2012
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Default Explanation

A) Defective mineralization of osteoid due to decreased in Vit-D: Osteomalacia
B) High serum Ca++ low serum PHO4: Hyperparathyroidism
C) Carbonic anhydrase II deficiency and cerebral calcification: Osteopetrosis or marble bone disease
D) Abnormal regulation sex steroid hormone in growth plate: Achondroplasia the major factors are: GH, IGF-1, Insulin, TH, Sex steroid hormone, and FGFR-3(correct answer)
E) Increases bone resorption due to abnormal estrogen levels: Osteoporosis type 1
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