Table 8.

Recommended Evaluations Following Initial Diagnosis in Individuals with COL1A1/2 Osteogenesis Imperfecta

System/ConcernEvaluationComment
Musculoskeletal Physical examinationTo assess deformities & presence of joint laxity
  • Referral to PT & OT
  • Surgical intervention as needed through experienced orthopedic management
As indicated by clinical presentation
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 examination
  • When teeth erupt in those w/DI or at risk for DI
  • By age 2-3 yrs for all children w/OI
Audiologic Formal hearing assessmentIn all individuals at diagnosis
Other Consultation w/clinical geneticist &/or genetic counselor

DI = dentinogenesis imperfecta; OT = occupational therapist; PT = physical therapist

1.

There is no universal agreement on when screening for basilar impression should be performed. A positive "Lhermitte's sign" (tingling in fingers with neck flexion) should prompt neurosurgical referral. Surgery is typically undertaken before persistent/permanent neurologic features are present.

From: COL1A1/2 Osteogenesis Imperfecta

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