Table 6.

Recommended Evaluations Following Initial Diagnosis in Individuals with CLCN7-Related Autosomal Dominant Osteopetrosis Type II

System/ConcernEvaluationComment
Osteosclerosis Baseline radiographic skeletal survey
Anemia & thrombocytopenia CBC w/reticulocyte count
Neurologic complications MRI &/or CT of neurocranium to evaluate for narrowed neuroforamina
Visual impairment Ophthalmologic exam incl VEPs to evaluate for optic nerve atrophy assoc w/optic nerve compression w/in skull base
Hearing loss Baseline audiologic assessment
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of CLCN7-related ADOII to facilitate medical & personal decision making

ADOII = autosomal dominant osteopetrosis type II; MOI = mode of inheritance; VEP = visual evoked potential

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: CLCN7-Related Osteopetrosis

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