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Page 1
Cochlear implantation in Bjornstad syndrome: a case series with literature review.
Gülşen S, Çıkrıkcı S. Gülşen S, et al. Eur Arch Otorhinolaryngol. 2024 Feb;281(2):1047-1052. doi: 10.1007/s00405-023-08265-6. Epub 2023 Oct 10. Eur Arch Otorhinolaryngol. 2024. PMID: 37816838 Review.
BACKGROUND: To report the presentation, diagnostic process, management and results of cochlear implantation of patients diagnosed with Bjornstad syndrome with profound sensorineural hearing loss (SNHL). CASE PRESENTATION AND MANAGEMENT: A retrospective report of two …
BACKGROUND: To report the presentation, diagnostic process, management and results of cochlear implantation of patients diagnosed with Bj …
Bjornstad syndrome.
Aggarwal D, Sardana K, Kumar P, Dewan V, Anand VK. Aggarwal D, et al. Indian J Pediatr. 2004 Aug;71(8):759-61. doi: 10.1007/BF02730670. Indian J Pediatr. 2004. PMID: 15345881
The audiological testing revealed bilateral sensorineural hearing loss. Child was diagnosed as a case of Bjornstad Syndrome....
The audiological testing revealed bilateral sensorineural hearing loss. Child was diagnosed as a case of Bjornstad Syndrome... …
[Bjornstad syndrome].
Baptista A, Amado F, Resende C. Baptista A, et al. Med Cutan Ibero Lat Am. 1989;17(1):28-31. Med Cutan Ibero Lat Am. 1989. PMID: 2666787 Portuguese.
We present a four year old boy with Bjornstad syndrome. The hair showed typical features of pili torti which were confirmed by optical and scanning electron microscopic evaluation. ...
We present a four year old boy with Bjornstad syndrome. The hair showed typical features of pili torti which were confirmed by …
Bjornstad syndrome and pili torti.
Scott MJ Jr, Bronson DM, Esterly NB. Scott MJ Jr, et al. Pediatr Dermatol. 1983 Jul;1(1):45-50. doi: 10.1111/j.1525-1470.1983.tb01091.x. Pediatr Dermatol. 1983. PMID: 6679889
Missense mutations in the BCS1L gene as a cause of the Bjornstad syndrome.
Hinson JT, Fantin VR, Schönberger J, Breivik N, Siem G, McDonough B, Sharma P, Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, Hoppel CL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE. Hinson JT, et al. N Engl J Med. 2007 Feb 22;356(8):809-19. doi: 10.1056/NEJMoa055262. N Engl J Med. 2007. PMID: 17314340 Free article.
BACKGROUND: The Bjornstad syndrome, an autosomal recessive disorder associated with sensorineural hearing loss and pili torti, is caused by mutation of a previously unidentified gene on chromosome 2q34-36. ...Functional analyses elucidated how BCS1L mutations cause …
BACKGROUND: The Bjornstad syndrome, an autosomal recessive disorder associated with sensorineural hearing loss and pili torti, …
Bjornstad syndrome in a patient with mental retardation.
Van Buggenhout G, Trommelen J, Hamel B, Fryns JP. Van Buggenhout G, et al. Genet Couns. 1998;9(3):201-4. Genet Couns. 1998. PMID: 9777342
Bjornstad syndrome is a rare condition with apparent autosomal recessive inheritance, characterized by hearing loss and twisted hairs (pili torti). All patients with Bjornstad syndrome reported thusfar have normal intelligence. We report on a patient w …
Bjornstad syndrome is a rare condition with apparent autosomal recessive inheritance, characterized by hearing loss and twiste …
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings.
Falco M, Franzè A, Iossa S, De Falco L, Gambale A, Marciano E, Iolascon A. Falco M, et al. Am J Med Genet A. 2017 May;173(5):1348-1352. doi: 10.1002/ajmg.a.38146. Epub 2017 Mar 21. Am J Med Genet A. 2017. PMID: 28322498
Bjornstad syndrome is a rare condition characterized by pili torti and sensorineural hearing loss associated with pathological variations in BCS1L. ...We report the first Italian patients with Bjornstad syndrome, two siblings with pili torti and sensor …
Bjornstad syndrome is a rare condition characterized by pili torti and sensorineural hearing loss associated with pathological …
The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36.
Lubianca Neto JF, Lu L, Eavey RD, Flores MA, Caldera RM, Sangwatanaroj S, Schott JJ, McDonough B, Santos JI, Seidman CE, Seidman JG. Lubianca Neto JF, et al. Am J Hum Genet. 1998 May;62(5):1107-12. doi: 10.1086/301837. Am J Hum Genet. 1998. PMID: 9545407 Free PMC article.
We evaluated a large kindred with Bjornstad syndrome in which eight members inherited pili torti and prelingual sensorineural hearing loss as autosomal recessive traits. ...We speculate that intermediate filament and intermediate filament-associated proteins are goo …
We evaluated a large kindred with Bjornstad syndrome in which eight members inherited pili torti and prelingual sensorineural …
Morphological analyses in fragility of pili torti with Bjornstad syndrome.
Marubashi Y, Yanagishita T, Muto J, Taguchi N, Sugiura K, Kawamoto Y, Akiyama M, Watanabe D. Marubashi Y, et al. J Dermatol. 2017 Apr;44(4):455-458. doi: 10.1111/1346-8138.13700. Epub 2016 Nov 24. J Dermatol. 2017. PMID: 27882597
We used pili torti samples from a patient with Bjornstad syndrome and normal hairs from a healthy subject as a comparison. The macroscopic morphological features of the samples agreed with the results of a previous study showing that pili torti is twisted, flattened …
We used pili torti samples from a patient with Bjornstad syndrome and normal hairs from a healthy subject as a comparison. The …
33 results