Table 5.

Recommended Evaluations Following Initial Diagnosis in Individuals with Baraitser-Winter Cerebrofrontofacial Syndrome

System/ConcernEvaluationComment
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech/language eval
  • Eval for early intervention / special education
Neurologic Neurologic eval
  • To incl brain MRI
  • Consider EEG if brain MRI anomaly &/or seizures present.
Eyes Ophthalmologic eval incl fundoscopyTo assess for malformation, ↓ vision, abnormal ocular mvmt, strabismus
Hearing Audiologic evalAssess for hearing loss
Gastroenterology
  • Abdominal ultrasound &, if necessary, assess GI motility.
  • Assess for feeding difficulties.
To assess for gastrointestinal disorders & dysfunction & feeding difficulties
Cardiovascular EchocardiogramAssess for congenital heart defects.
Genitourinary Renal ultrasoundEvaluate for malformation of kidneys &/or ureters
Hematology Blood count & platelet countBaseline study given possible ↑ risk for hematologic malignancy 1
Genetic counseling By genetics professionals 2To inform affected persons & their families re nature, MOI, & implications of BWCFF syndrome to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

BWCFF = Baraitser-Winter cerebrofrontofacial; MOI = mode of inheritance

1.

Note that individuals diagnosed via molecular genetic testing with a pathogenic ACTB variant who have only a mild BWCFF syndrome phenotype in combination with thrombocytopenia may have an allelic disorder, as BWCFF syndrome is not associated with thrombocytopenia (see Genetically Related Disorders).

2.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Baraitser-Winter Cerebrofrontofacial Syndrome

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