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An infant is brought to your office for evaluation of his hands. Clinical photos are shown in Figures A and B. The clinical features are most consistent with a genetic mutation in which of the following:
Sonic Hedgehog (SHH)
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A 4-year-old child has flattened facial features, wide set eyes, and the hand deformity pictured in Figure A. Which of the following is the most likely diagnosis?
Multiple epiphyseal dysplasia
Apert's syndrome is caused by a mutation in what gene?
Fibroblast growth factor receptor 2 (FGFR2)
Fibroblast growth factor receptor 3 (FGFR3)
Collagen type II alpha 1 chain (COL2A1)
SED late (SEDL)