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

System/Concern	Evaluation	Comment
Branchial defects	Exam of skin defects by pediatric plastic surgeon	To delineate extent of lesion(s), determine if there is a sinus, &, most importantly, determine if thymic remnant could be present
Eyes	Complete eye exam by pediatric ophthalmologist	To assess for visual limitations, strabismus, & nasolacrimal duct obstruction
Referral of those w/anophthalmia &/or severe microphthalmia to support services for visually impaired
Cleft lip/palate	Formal eval of cleft lip/palate & other possible facial abnormalities	By cleft lip/palate team, which often incl clinical geneticist, pediatric plastic surgeon, ENT, audiologist, speech-language therapist, & dental & orthodontic specialist
Hearing	Hearing eval CT imaging of temporal bone to anticipate optimal hearing correction ¹
Kidney	Renal ultrasonography w/referral to nephrologist if renal abnormalities are identified
Dental	Referral for dental assessment for any dental issues	If not done as part of cleft assessment
Neurodevelopment/ Behavior	Developmental assessment particularly for children w/visual &/or hearing problems Assessment for depression, attention dysregulation, autism, intellectual disability
Cardiac	Echocardiogram in those w/murmur or cardiac symptoms
Genetic counseling	By genetics professionals ²	To inform affected persons & their families re nature, MOI, & implications of BOFS to facilitate medical & personal decision making
Family support & resources	Assess need for: Community or online resources such as Parent to Parent; Social work involvement for parental support; Home nursing referral.

System/Concern

Evaluation

Comment

Branchial defects

Exam of skin defects by pediatric plastic surgeon

To delineate extent of lesion(s), determine if there is a sinus, &, most importantly, determine if thymic remnant could be present

Eyes

Complete eye exam by pediatric ophthalmologist

To assess for visual limitations, strabismus, & nasolacrimal duct obstruction

Referral of those w/anophthalmia &/or severe microphthalmia to support services for visually impaired

Cleft lip/palate

Formal eval of cleft lip/palate & other possible facial abnormalities

By cleft lip/palate team, which often incl clinical geneticist, pediatric plastic surgeon, ENT, audiologist, speech-language therapist, & dental & orthodontic specialist

Hearing

Hearing eval
CT imaging of temporal bone to anticipate optimal hearing correction ¹

Kidney

Renal ultrasonography w/referral to nephrologist if renal abnormalities are identified

Dental

Referral for dental assessment for any dental issues

If not done as part of cleft assessment

Neurodevelopment/
Behavior

Developmental assessment particularly for children w/visual &/or hearing problems
Assessment for depression, attention dysregulation, autism, intellectual disability

Cardiac

Echocardiogram in those w/murmur or cardiac symptoms

Genetic counseling

By genetics professionals ²

To inform affected persons & their families re nature, MOI, & implications of BOFS to facilitate medical & personal decision making

Family support
& resources

Assess need for:

Community or online resources such as Parent to Parent;
Social work involvement for parental support;
Home nursing referral.

From: Branchiooculofacial Syndrome

GeneReviews^® [Internet].

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

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