Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Char Syndrome

System/ConcernEvaluationComment
Dental Dental eval after age 3 yrsTo assess for hypodontia & other tooth anomalies
Eyes Ophthalmology evalTo assess for strabismus & refractive error
Hearing Audiology evalTo assess for hearing loss
Cardiovascular Cardiac eval, usually incl echocardiogramTo screen for PDA &/or other cardiac anomalies 1
Musculoskeletal Physical exam for polydactyly, symphalangism, & syndactylyHand &/or foot radiographs may be considered.
Sleep Assessment for sleep disorders incl abnormal movements during sleep
Craniofacial Assessment of head shape & sizeImaging may be needed if craniosynostosis suspected.
Miscellaneous/
Other 		Consultation w/clinical geneticist &/or genetic counselorTo incl genetic counseling
Family support & resourcesUse of community or online resources such as Parent to Parent

PDA = patent ductus arteriosus

1.

Evaluation in the newborn nursery may not be completely informative, as the ductus arteriosus may remain open for several days in any neonate.

From: Char Syndrome

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