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

System/Concern	Evaluation	Comment
Oropharynx	Dental eval for anomalies incl macrodontia, oligodontia, enamel hypoplasia [Kumar et al 2009]
Assessment for cleft palate, bifid uvula, velopharyngeal insufficiency	Refer to cleft/craniofacial team if palatal anomalies are present or suspected.
Neurologic	EEG if seizures are suspected	Consider head MRI to evaluate for brain malformations if seizures are present.
Genitourinary	Assessment for undescended testes in males	Refer to urologist as needed.
Hearing	Audiologic eval
Cardiovascular	Echocardiogram to assess for congenital heart disease	Refer to cardiologist as needed.
Eyes	Ophthalmologic eval
Miscellaneous/ Other	Developmental assessment	Consider psychiatric eval for severe behavioral issues.
Consultation w/clinical geneticist &/or genetic counselor

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