Table 4. [Recommended Evaluations Following Initial Diagnosis in Individuals with Cockayne Syndrome]. - GeneReviews®

System/ Concern	Evaluation	Comment
Growth	Measure & plot on standard growth charts. Assessment of feeding
Development	Developmental assessment	To incl motor, adaptive, cognitive & speech/language eval Eval for early intervention / special education
Neurologic	Brain MRI Assessment of muscle tone & for presence of contractures
Eyes	Ophthalmologic eval	Possibly incl electroretinogram.
Hearing	Audiologic eval	Incl audiogram.
Skin	Dermatologic eval
Teeth	Dental eval
Skeletal	Radiographs to document skeletal dysplasia if suggestive clinical signs
Kidneys	Laboratory eval of renal function
Liver	Laboratory eval of liver function
Other	Consultation w/clinical geneticist &/or genetic counselor

GeneReviews^® [Internet].

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

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