Baraitser-Winter cerebrofrontofacial syndrome
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Baraitser-Winter cerebrofrontofacial syndrome. This is caused by missense mutations in the β- and γ-actin (ACTB and ACTG) genes.
Genetics
- This is caused by missense mutations in the β- and γ-actin (ACTB and ACTG) genes
Craniofacial dysmorphism
Locked: subscribe to see this section.
Ocular features
Locked: subscribe to see this section.
Epilepsy types
Locked: subscribe to see this section.
Brain abnormalities
Locked: subscribe to see this section.
Other clinical features
Locked: subscribe to see this section.
Differential diagnosis
Locked: subscribe to see this section.
References
- Climans SA, Mirsattari SM. Generalized epilepsy in Baraitser-Winter cerebrofrontofacial syndrome. Epilepsy Behav Case Rep 2017; 7:58-60.
- Cianci P, Fazio G, Casagranda S, et al. Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome. Am J Med Genet A 2017; 173:546-549.
- Yates TM, Turner CL, Firth HV, Berg J, Pilz DT. Baraitser-Winter cerebrofrontofacial syndrome. Clin Genet 2017; 92:3-9.
- Verloes A, Di Donato N, Masliah-Planchon J, et al. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. Eur J Hum Genet 2015; 23:292-301.
- Verloes A, Di Donato N, Masliah-Planchon J, et al. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. Eur J Hum Genet 2015; 23:292-301.
- And 3 more. Subscribe to see the full list
