| 词条 | Björnstad syndrome |
| 释义 |
| name = Björnstad syndrome | synonyms = | image = | caption = | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} Björnstad syndrome is an autosomal recessive congenital condition involving pili torti[1] and nerve deafness and hair abnormalities. It was first characterized in 1965, in Oslo, by prof. Roar Theodor Bjørnstad (1908–2002).[2] It has been mapped to BCS1L.[3] Hearing disabilities related to Björnstad syndrome are congenital, and the severity of the deafness varies from person to person. Pili torti is recognized in early childhood and is characterised by twisted hair shafts and brittle hair.[4]The hearing loss usually becomes evident very early in life, often in the first year. It is caused by mutations in the BCS1L gene which also cause GRACILE syndrome.[5] References1. ^{{cite journal|last1=Siddiqi|first1=Saima|last2=Siddiq|first2=Saadat|last3=Mansoor|first3=Atika|last4=Jaap|first4=Oostrik|last5=Nafees|first5=Ahmad|last6=Syed Ali|first6=Raza Kazmi|last7=Hannie|first7=Kremer|last8=Raheel|first8=Qamar|last9=Margit|first9=Schraders|title=Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome|journal=Journal of Human Genetics|date=December 1, 2013|volume=12|issue=58|pages=819–820|doi=10.1038/jhg.2013.101|pmid=24172246}} 2. ^Bjornstad, R. Pili torti and sensory-neural loss of hearing. Proc. 7th Meeting Northern Derm. Soc., Copenhagen May-29, 1965. 3. ^{{cite journal |vauthors=Hinson JT, Fantin VR, Schönberger J |title=Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome |journal=N. Engl. J. Med. |volume=356 |issue=8 |pages=809–19 |date=February 2007 |pmid=17314340 |doi=10.1056/NEJMoa055262 |url=http://content.nejm.org/cgi/pmidlookup?view=short&pmid=17314340&promo=ONFLNS19|display-authors=etal}} 4. ^{{cite journal|last1=Hinson|first1=J. Travis|last2=Fantin|first2=Valeria R.|last3=Schönberger|first3=Jost|last4=Breivik|first4=Noralv|last5=Siem|first5=Geir|last6=McDonough|first6=Barbara|last7=Sharma|first7=Pankaj|last8=Keogh|first8=Ivan|last9=Godinho|first9=Ricardo|last10=Santos|first10=Felipe|last11=Esparza|first11=Alfonso|last12=Nicolau|first12=Yamileth|last13=Selvaag|first13=Edgar|last14=Cohen|first14=Bruce H.|last15=Hoppel|first15=Charles L.|last16=Tranebjærg|first16=Lisbeth|last17=Eavey|first17=Roland D.|last18=Seidman|first18=J.G.|last19=Seidman|first19=Christine E.|title=Missense Mutations in the BCS1L Gene as a Cause of the Björnstad Syndrome|journal=New England Journal of Medicine|date=22 February 2007|volume=356|issue=8|pages=809–819|doi=10.1056/NEJMoa055262|issn=0028-4793|pmid=17314340}} 5. ^{{cite web|title=Bjornstad syndrome|url=https://rarediseases.info.nih.gov/diseases/22/bjornstad-syndrome|website=NCATS|publisher=Genetic and rare diseases information center|accessdate=17 April 2018}} External links{{Medical resources| DiseasesDB = 33516 | ICD10 = | ICD9 = | ICDO = | OMIM = 262000 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = }}{{Congenital malformations and deformations of skin appendages}}{{Disorders of TCA and ETC}}{{DEFAULTSORT:Bjornstad syndrome}}{{genetic-disorder-stub}} 3 : TCA and ETC metabolism disorders|Syndromes affecting hearing|Rare syndromes |
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