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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Table 9.

Recommended Surveillance for Individuals with COL1A1/2 Osteogenesis Imperfecta

System/ConcernEvaluationFrequency
Musculoskeletal Orthopedic evaluationEvery 3 mos until age 1 yr, every 6 mos from 1 to 3 yrs, then annually or w/any new fractures
Physical & rehabilitation medicineAnnually or more frequently if necessary for more severe clinical forms
Physical therapyIn infancy for individuals w/motor delays & as needed to improve mobility & function
Neurologic CT &/or MRI examination w/views across base of skull to evaluate for basilar impressionIf concerning signs or symptoms are present 1
Cervical spine flexion & extension radiographsIn children able to cooperate w/examination or before participating in sporting activities in more mildly affected individuals
Dental Dental examinations2x/yr for those w/DI or at risk for DI
Audiologic Hearing evaluationEvery 3-5 yrs from age 5 yrs until HL is identified, then as indicated based on nature & degree of HL & associated interventions

DI = dentinogenesis imperfecta; HL = hearing loss

1.

There is no universal agreement on when screening for basilar impression should be performed.

From: COL1A1/2 Osteogenesis Imperfecta

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