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Ped Rheum Boards

Genetic Mimickers of JIA

QuestionAnswer
AR mutation of proteoglycan 4 (PRG4) gene CACP (camptodactyly, arthropathy, coxa vara, pericarditis)
- camptodactyly - noninflammatory arthropathy with effusions, contractures - coxa vara deformity CACP (camptodactyly, arthropathy, coxa vara, pericarditis)
30% with noninflammatory pericarditis CACP (camptodactyly, arthropathy, coxa vara, pericarditis)
AR mutations in GALNS or GLB1 Morquio syndrome (MPS IV)
- progressive skeletal & joint problems - short-trunk dwarfism - spine abnormalities - dysostosis multiplex - hypermobility Morquio syndrome (MPS IV)
- no cognitive impairment - resp & cardiac disease - corneal clouding, refractive error Morquio syndrome (MPS IV)
AR mutation in IDUA Scheie/Hurler-Scheie (MPS I)
- dysostosis multiplex - progressive restricted ROM in hands, elbows, knees Scheie/Hurler-Scheie (MPS I)
- mild developmental delay - coarse facial features - umbilical, inguinal hernias - chest deformities - excessive growth - recurrent ENT infections, hearing loss Scheie/Hurler-Scheie (MPS I)
- mutations in COL2A1, COL11A1, COL11A2, COL9A2, COL9A3 - can be AD, AR, sporadic Stickler syndrome
- early osteoarthritis - femoral head changes - scoliosis, spondylolisthesis, Scheuermann kyphosis Stickler syndrome
- vitreous changes or retinal abnormalities - sensorineural hearing loss - cleft palate - characteristic facial features Stickler syndrome
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