Table 9.

Recommended Surveillance for Individuals with Infantile Malignant CLCN7-Related Autosomal Recessive Osteopetrosis (ARO)

System/ConcernEvaluationFrequency
Bone marrow failure CBCAnnually at a minimum
Visual loss Ophthalmic exam
Hearing loss Audiologic eval
Dental issues Dental evalEvery 6-12 mos or as directed
Potential for graft failure after HSCT Transplant center surveillanceAs directed by specialists

CBC = complete blood count; HSCT = hematopoietic stem cell transplantation

From: CLCN7-Related Osteopetrosis

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