Baraitser-Winter Cerebrofrontofacial Syndrome.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620025
Title:
Baraitser-Winter Cerebrofrontofacial Syndrome.
Authors:
Yates, T M; Turner, Claire L.; Firth, H V; Berg, J; Pilz, D T
Abstract:
Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF) [BRWS; MIM #243310, 614583] is a rare developmental disorder affecting multiple organ systems. It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (metopic ridging/trigonocephaly, bilateral ptosis, hypertelorism). The additional presence of cortical malformations (pachygyria/lissencephaly) and ocular colobomata are also suggestive of this syndrome. Other features include moderate short stature, contractures, congenital cardiac disease and genitourinary malformations. BWCFF is caused by missense mutations in the cytoplasmic beta- and gamma-actin genes ACTB and ACTG1. We provide an overview of the clinical characteristics (including some novel findings in four recently diagnosed patients), diagnosis, management, mutation spectrum and genetic counselling.
Citation:
Baraitser-Winter Cerebrofrontofacial Syndrome. 2017 Jul;92(1):3-9. Epub 2016 Nov 30: Clin. Genet.
Publisher:
Wiley
Journal:
Clinical Genetics
Issue Date:
13-Sep-2016
URI:
http://hdl.handle.net/11287/620025
DOI:
10.1111/cge.12864
PubMed ID:
27625340
Additional Links:
http://dx.doi.org/10.1111/cge.12864
Type:
Journal Article
ISSN:
1399-0004
Appears in Collections:
Clinical Genetics (Peninsula Genetics); 2016 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorYates, T Men
dc.contributor.authorTurner, Claire L.en
dc.contributor.authorFirth, H Ven
dc.contributor.authorBerg, Jen
dc.contributor.authorPilz, D Ten
dc.date.accessioned2016-09-21T14:12:47Z-
dc.date.available2016-09-21T14:12:47Z-
dc.date.issued2016-09-13-
dc.identifier.citationBaraitser-Winter Cerebrofrontofacial Syndrome. 2017 Jul;92(1):3-9. Epub 2016 Nov 30: Clin. Genet.en
dc.identifier.issn1399-0004-
dc.identifier.pmid27625340-
dc.identifier.doi10.1111/cge.12864-
dc.identifier.urihttp://hdl.handle.net/11287/620025-
dc.description.abstractBaraitser-Winter Cerebrofrontofacial syndrome (BWCFF) [BRWS; MIM #243310, 614583] is a rare developmental disorder affecting multiple organ systems. It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (metopic ridging/trigonocephaly, bilateral ptosis, hypertelorism). The additional presence of cortical malformations (pachygyria/lissencephaly) and ocular colobomata are also suggestive of this syndrome. Other features include moderate short stature, contractures, congenital cardiac disease and genitourinary malformations. BWCFF is caused by missense mutations in the cytoplasmic beta- and gamma-actin genes ACTB and ACTG1. We provide an overview of the clinical characteristics (including some novel findings in four recently diagnosed patients), diagnosis, management, mutation spectrum and genetic counselling.en
dc.languageENG-
dc.publisherWileyen
dc.relation.urlhttp://dx.doi.org/10.1111/cge.12864en
dc.rightsArchived with thanks to Clinical geneticsen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleBaraitser-Winter Cerebrofrontofacial Syndrome.-
dc.typeJournal Articleen
dc.identifier.journalClinical Geneticsen
dc.type.versionIn press (epub ahead of print)en

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