Table 3. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
Skin	Dermatologic eval
Skeletal	Baseline skeletal radiographic exam by age 5 yrs to identify underlying skeletal abnormalities; baseline DXA scan to assess bone mineral density if indicated	Obtain DXA if osteopenia is seen on skeletal survey or there is a history of fractures.
Hematologic	Baseline CBC w/differential	Individuals w/clinical evidence of anemia or cytopenias should be evaluated by CBC & bone marrow biopsy if clinically indicated.
Vision	Ophthalmologic exam to evaluate for cataracts
Other	Consultation w/clinical geneticist &/or genetic counselor

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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