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Vitamin D deficiency
11%
149/1398
Abnormal osteoclast function
2%
32/1398
Qualitative defect of type I collagen synthesis
79%
1099/1398
Mutated fibroblast growth factor receptor
33/1398
Defective N-Ac-Gal-6 sulfate sulfatase enzyme
5%
71/1398
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The question stem is describing a patient with osteogenesis imperfecta Type IV, which is caused by a qualitative defect in the synthesis of Type I collagen. Inherited or spontaneous genetic mutations of genes COL1A1 and COL1A2 are known to be the basic anomaly that alters the collagen synthesis and structure. The quantitative disorders of type I collagen are associated with milder forms of OI (Type I), whereas the qualitative disorders are associated with more severe phenotypes (Types II, III and IV). Moderate clinical severity with white sclera and dentinogenesis imperfecta, shown in Figure A, are classically associated with Type IV OI. Figure B demonstrated lower extremity bowing and malunion, characteristic of OI. In their review article, Baitner et al describe the major osteochondrodysplasias, define their causes and clinical manifestations, and discuss the underlying molecular defects as well as the anatomical aspects of these disorders. Incorrect Answers: 1-Vitamin D deficiency is associated with Rickets, of which there are many types. It presents with a variety of symptoms including genu varum, increased fracture risk, and bone pain. 2-Abnormal osteoclast function is associated with osteopetrosis, and excessive bone accumulation and fragility. 4-Mutated FGFR is associated with achondroplasia. 5-Defective N-Ac-Gal-6 sulfatase enzyme is associated with Morquio Syndrome.
4.2
(23)
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