The initial work up should include a developmental evaluation, echocardiogram, hearing testing and an eye exam including fundoscopy. Gonadotropin and growth hormone testing is recommended in males and females during infancy or at puberty because of a high frequency of hypogonadism detected with the condition. Brain MRI is also recommended because of a high prevalence of hydrocephalus and Chiari 1. There should be a high level of suspicion for moyamoya disease and if suspected perform MRA. A skeletal survey is advisable especially an evaluation for cervical vertebrae fusion.
CHD4