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A 3-year-old girl with short stature and rhizomelic shortening of the limbs presents to your office for follow-up of thoracolumbar kyphosis and trident hands. Her mother reports that her younger sister has a similar stature. Which of the following genetic pedigrees would be most consistent with this patient's condition?
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A 13-month-old child is found to have the abnormal spine imaging shown in Figure A. The deformity resolves spontaneously when he begins to walk. What is the most common form of inheritance for the gene defect associated with his underlying condition?
Which of the following is associated with achondroplasia?
Central sleep apnea
A 13-year-old girl presents with her mother for evaluation of left knee pain. Her mother also has short stature and is followed in the orthopaedic spine clinic. Both patients have frontal bossing. What is the genetic defect responsible for this condition?
Cartilage oligomeric matrix protein (COMP) on chromosome 17
Cartilage oligomeric matrix protein (COMP) on chromosome 19
Fibroblast growth factor receptor 3 (FGFR-3)
Runt-related transcription factor 2 (RUNX2)
Core-binding factor subunit alpha-1 (CBF-alpha-1)
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)?
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
Which of the following conditions is associated with a mutation in fibroblast growth factor receptor-3 (FGFR3)?
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
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
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