Type V, VI, VII have been added to the original classification system (these have no Type I collagen mutation but have abnormal bone on microscopy and a similar phenotype)
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Which of the following pediatric congenital disorders is caused by a glycine substitution in the procollagen molecule?
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A 12-year-old girl has been diagnosed with a severe form of osteogenesis imperfecta that has resulted in thin bones and multiple fractures. She now presents for follow-up of scoliosis which was noticed by her mother 1 year ago. She has no back pain and is neurologically intact. Radiographs show a 42-degree right thoracic curve, which has increased from 31-degree from her previous radiographs taken 9 months earlier. What is the most appropriate management for her spinal deformity?
Observation alone with serial radiographic and clinical monitoring.
Posterior spinal fusion with instrumentation
Anterior spinal fusion with instrumentation
Fixation with telescoping rods
Custom-molded bracing with serial radiographic and clinical monitoring.
An adolescent male with a known genetic mutation of COL1A1 presents to the emergency department with symptoms of unsteady gait and difficulty with buttoning his shirt. On physical exam, when the patient holds his fingers extended and adducted, the small finger spontaneously abducts. Snapping of the patient's distal phalanx of the middle finger leads to spontaneous flexion of the other fingers. What is the most likely cause of the patient's symptoms?
C6 cervical disc foraminal herniation
Ossification of the posterior longitudinal ligament (OPLL)
A 10-year-old girl has bilateral knee radiographs as shown in Figure A. Which of the following conditions is most likely present?
Osteogenesis imperfecta (OI)
Ellis-van Creveld (EVC) syndrome/chondroectodermal dysplasia
Juvenile idiopathic arthritis (JIA)
A 12-year-old girl presents with a history of numerous long bone fractures in the past. Examination reveals normal-appearing sclera, and the dentin abnormality shown in Figure A. A radiograph of her lower extremities is shown in Figure B. The patient’s disorder is the result of which of the following?
Vitamin D deficiency
Abnormal osteoclast function
Qualitative defect of type I collagen synthesis
Mutated fibroblast growth factor receptor
Defective N-Ac-Gal-6 sulfate sulfatase enzyme
A mutation in the COL1A1 and COL1A2 genes is associated with all of the following manifestations EXCEPT:
Olecranon apophyseal avulsion fractures
Discoloration of sclerae
A child has a genetic disorder of the COL1A1 gene resulting in a decreased production of functional type I collagen. Which of the following radiographs is MOST consistent with his condition?
Type I collagen defects are responsible for the clinical manifestations of osteogenesis imperfecta. Mutation of what gene or genes are most responsible for this?
In children with moderate to severe osteogenesis imperfecta (OI), intravenous pamidronate therapy has been shown to increase the thickness of cortical bone. This occurs primarily as a consequence of
increased bone turnover in the cortical area.
inhibition of osteoclast-mediated bone resorption.
improved mineralization of cortical bone.
improved osteoblast organic matrix production.
improved organization of collagen matrix.