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A 3-year-old boy is referred to you because of "abnormal radiographs". The child's radiographs are shown in Figures A and B. This patient is at increased risk for all of following conditions EXCEPT:
Cranial nerve palsies
Vertebral compression fractures
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What is the cellular mechanism responsible for osteopetrosis (Albers-Schönberg Disease)?
Inactive osteoclast Gs alpha subunit of the G-protein coupled receptor
Inactive osteoclast carbonic anhydrase
Inactive osteoclast mitochondria
Overactive osteoblast ruffled border
Overactive osteoblast RunX2
A 5-year-old boy has sustained multiple fractures since birth. A pelvis radiograph taken 4 years ago is shown in Figure A. A current spine radiograph is shown in Figure B. Which of the following describes the mode of inheritance of this disease?
Which of the following most accurately describes the cause of osteopetrosis?
Decreased expression of type I collagen
Decreased mineralization of osteoid matrix
Loss-of-function of GS alpha protein gene
Loss-of-function of carbonic anhydrase II gene
Mutation of FGFR3
An enzymatic mutation leading to abnormal carbonic anhydrase function in osteoclasts would lead to a condition best illustrated by which of the following radiographs in Figures A thru E.
A 22-year-old male sustained a distal radius fracture following a fall down the stairs. The emergency room physician noticed abnormal bone appearance on the radiographs and referred him for skeletal survey and further orthopaedic evaluation. Pelvis and spine radiographs are provided in Figures A and B. Which of the following best describe the etiology of the bony disease?
Defect in renal 25-(OH)-vitamin D1 alpha-hydroxylase
Defective osteoclast function
Autosomal dominant inheritance of altered fibroblast growth factor receptor 3 (FGFR3)
Alteration in osteoblast differentiation
Inability of proximal tubules to reabsorb phosphate