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Where is the underlying defect in a rhizomelic dwarf with the findings shown in Figure 5?
Type I collagen
Type II collagen
Collagen oligomeric protein (COMP)
Fibroblast growth factor receptor 3
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Which of the following radiographs represents the condition associated with the genetic mutation G380R in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3)?
A 7-year-old presents to your office for general orthopedic evaluation at the request of his primary care physician. A clinical picture of the patient with his taller sibling is shown in Figure A. What physeal zone is affected by the mutation leading to this patient's condition?
Zone of hypertrophy
Zone of proliferation
Which of the following conditions is associated with a mutation in fibroblast growth factor receptor-3 (FGFR3)?
Dwarfism caused by a defect of fibroblast growth factor receptor-3 (FGFR3) is associated with all of the following traits EXCEPT:
Rhizomelic limb shortening
Cervical spine instability
Achondroplasia results from abnormal chondrocyte function in the physis. What receptor is defective and what region of the physis is affected?
FGFR-3, zone of proliferation
FGFR-2, zone of proliferation
FGFR-3, zone of hypertrophy
FGFR-2, zone of hypertrophy
COMP, zone of hypertrophy