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Baraitser-Winter Cerebrofrontofacial Syndrome.
Verloes A, Drunat S, Pilz D, Di Donato N. Verloes A, et al. 2015 Nov 19 [updated 2022 Mar 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2015 Nov 19 [updated 2022 Mar 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 26583190 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome is a multiple congenital anomaly syndrome characterized by typical craniofacial features and intellectual disability. ...Once the ACTB or ACTG1 pathogenic variant has been …
CLINICAL CHARACTERISTICS: Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome is a multiple congenital anomaly syn …
Baraitser-Winter cerebrofrontofacial syndrome.
Yates TM, Turner CL, Firth HV, Berg J, Pilz DT. Yates TM, et al. Clin Genet. 2017 Jul;92(1):3-9. doi: 10.1111/cge.12864. Epub 2016 Nov 30. Clin Genet. 2017. PMID: 27625340 Review.
Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) (BRWS; MIM #243310, 614583) is a rare developmental disorder affecting multiple organ systems. ...The additional presence of cortical malformations (pachygyria/lissencephaly) and ocular colobomata are also …
Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) (BRWS; MIM #243310, 614583) is a rare developmental disorder affe …
Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings.
Hampshire K, Martin PM, Carlston C, Slavotinek A. Hampshire K, et al. Am J Med Genet A. 2020 Aug;182(8):1923-1932. doi: 10.1002/ajmg.a.61637. Epub 2020 Jun 7. Am J Med Genet A. 2020. PMID: 32506774
Baraitser-Winter cerebrofrontofacial syndrome (BWCS) is a rare, autosomal dominant condition that is characterized by intellectual disability, distinctive craniofacial features, structural brain abnormalities, seizures, microcephaly, hearing loss, and ocular …
Baraitser-Winter cerebrofrontofacial syndrome (BWCS) is a rare, autosomal dominant condition that is characterized by i …
Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.
Ghiselli S, Parmeggiani G, Zambonini G, Cuda D. Ghiselli S, et al. J Clin Med. 2024 Mar 5;13(5):1500. doi: 10.3390/jcm13051500. J Clin Med. 2024. PMID: 38592426 Free PMC article. Review.
Background: Baraitser-Winter Syndrome (BRWS) is a rare autosomal dominant condition associated with hearing loss (HL). In the literature, two types of this condition are reported, Baraitser-Winter type 1 (BRWS1) and type 2 (BRWS2) produced by sp …
Background: Baraitser-Winter Syndrome (BRWS) is a rare autosomal dominant condition associated with hearing loss (HL). …
Obsessive-compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Göbel T, Berninger L, Schlump A, Feige B, Runge K, Nickel K, Schiele MA, van Elst LT, Hotz A, Alter S, Domschke K, Tzschach A, Endres D. Göbel T, et al. J Neural Transm (Vienna). 2022 Nov;129(11):1387-1391. doi: 10.1007/s00702-022-02544-y. Epub 2022 Oct 7. J Neural Transm (Vienna). 2022. PMID: 36205783 Free PMC article.
Symptoms of obsessive-compulsive disorder (OCD) may rarely occur in the context of genetic syndromes. So far, an association between obsessive-compulsive symptoms (OCS) and ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome has not been des …
Symptoms of obsessive-compulsive disorder (OCD) may rarely occur in the context of genetic syndromes. So far, an association between …
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière JB, Dobyns WB, Pilz DT. Verloes A, et al. Eur J Hum Genet. 2015 Mar;23(3):292-301. doi: 10.1038/ejhg.2014.95. Epub 2014 Jul 23. Eur J Hum Genet. 2015. PMID: 25052316 Free PMC article.
Baraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous gain-of-function mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1 that encode beta- and gamma- …
Baraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heter …
New ocular finding in Baraitser-Winter syndrome (BWS).
Rall N, Leon A, Gomez R, Daroca J, Lacassie Y. Rall N, et al. Eur J Med Genet. 2018 Jan;61(1):21-23. doi: 10.1016/j.ejmg.2017.10.006. Epub 2017 Oct 9. Eur J Med Genet. 2018. PMID: 29024830
Baraitser-Winter syndrome was first described as a syndrome of iris coloboma, ptosis, hypertelorism, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016). The phenotypic spectrum has since broadened to include other facial dysmorphic fea …
Baraitser-Winter syndrome was first described as a syndrome of iris coloboma, ptosis, hypertelorism, and mental …
[Baraitser-Winter syndrome caused by ACTB gene variation].
Yu ZN, Huang XW, Hong F, Zhang T, Yang JB. Yu ZN, et al. Zhonghua Er Ke Za Zhi. 2020 Apr 2;58(4):333-335. doi: 10.3760/cma.j.cn112140-20190825-00535. Zhonghua Er Ke Za Zhi. 2020. PMID: 32234145 Chinese.
Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature.
Rossi M, Guerrini R, Dobyns WB, Andria G, Winter RM. Rossi M, et al. Neuropediatrics. 2003 Dec;34(6):287-92. doi: 10.1055/s-2003-44666. Neuropediatrics. 2003. PMID: 14681753 Review.
Baraitser-Winter syndrome is a rare autosomal recessive disorder characterized by developmental delay, dysmorphic features, and multiple malformations also involving the brain. ...These two patients and a review of the previously reported cases indicate that …
Baraitser-Winter syndrome is a rare autosomal recessive disorder characterized by developmental delay, dysmorphic featu …
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