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Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.
De Maria B, Mazzanti L, Roche N, Hennekam RC. De Maria B, et al. Am J Med Genet A. 2016 Aug;170(8):1989-2001. doi: 10.1002/ajmg.a.37757. Epub 2016 May 19. Am J Med Genet A. 2016. PMID: 27196381 Review.
Barber-Say syndrome (BSS) and Ablepharon-Macrostomia syndrome (AMS) are congenital malformation syndromes caused by heterozygous mutations in TWIST2. ...
Barber-Say syndrome (BSS) and Ablepharon-Macrostomia syndrome (AMS) are congenital malformation syndromes caused by het …
Oral and dental abnormalities in Barber-Say syndrome.
Martins F, Ortega KL, Hiraoka C, Ricardo P, Magalhães M. Martins F, et al. Am J Med Genet A. 2010 Oct;152A(10):2569-73. doi: 10.1002/ajmg.a.32898. Am J Med Genet A. 2010. PMID: 20830793
A previously unreported case of Barber-Say syndrome is described with special attention to dental manifestations. ...
A previously unreported case of Barber-Say syndrome is described with special attention to dental manifestations. ...
Multidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report.
Barreiro-González A, Barranco-González H, Aviñó-Martínez J, López Blanco E, Gutiérrez Ontalvilla P, Évole-Buselli M. Barreiro-González A, et al. Arch Soc Esp Oftalmol (Engl Ed). 2019 Apr;94(4):196-199. doi: 10.1016/j.oftal.2018.09.009. Epub 2018 Nov 16. Arch Soc Esp Oftalmol (Engl Ed). 2019. PMID: 30455119 English, Spanish.
Barber-Say syndrome is an unusual dysplasia caused by the mutation of the TWIST2 gene (2q37.3), which encodes a protein that acts at an epigenetic level. The case is presented of a 2-day-old male child in whom ectropion, hypertelorism, hypertrichosis and othe …
Barber-Say syndrome is an unusual dysplasia caused by the mutation of the TWIST2 gene (2q37.3), which encodes a protein …
Clinical Description, Molecular Analysis of TWIST2 Gene, and Surgical Treatment in a Patient With Barber-Say Syndrome.
Zuazo F, Astiazaran MC, Rodríguez-Cabrera L, Garcia-Regil P, Chacon-Camacho O, Tovilla-Canales JL, Zenteno JC. Zuazo F, et al. Ophthalmic Plast Reconstr Surg. 2018 Mar/Apr;34(2):e61-e63. doi: 10.1097/IOP.0000000000001036. Ophthalmic Plast Reconstr Surg. 2018. PMID: 29329175
Barber-Say syndrome is a rare autosomal dominant disease characterized by dysmorphic features, mainly of the eyelids and skin. ...The authors present the case of a pediatric patient with a clinical diagnosis of Barber-Say syndrome with oc …
Barber-Say syndrome is a rare autosomal dominant disease characterized by dysmorphic features, mainly of the eyelids an …
What syndrome is this? Barber-Say syndrome.
Tenea D, Jacyk WK. Tenea D, et al. Pediatr Dermatol. 2006 Mar-Apr;23(2):183-4. doi: 10.1111/j.1525-1470.2006.00210.x. Pediatr Dermatol. 2006. PMID: 16650233 No abstract available.
Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution.
Takenouchi T, Sakamoto Y, Sato H, Suzuki H, Uehara T, Ohsone Y, Kosaki K. Takenouchi T, et al. Am J Med Genet A. 2018 Dec;176(12):2777-2780. doi: 10.1002/ajmg.a.40525. Epub 2018 Nov 18. Am J Med Genet A. 2018. PMID: 30450715
Heterozygous localized TWIST1 and TWIST2 basic domain substitutions exert antimorphic effects to cause Sweeney-Cox syndrome, Barber-Say syndrome, and ablepharon-macrostomia syndrome, respectively. Sweeney-Cox syndrome, Barber-Say syndrome …
Heterozygous localized TWIST1 and TWIST2 basic domain substitutions exert antimorphic effects to cause Sweeney-Cox syndrome, Barber- …
Multiple rhabdomyomatous mesenchymal hamartomas in a patient with mosaic Barber-Say syndrome.
Giacaman A, Corral-Magaña O, Saus Sarrias C, González-López G, Asensio Landa VJ, Martín-Santiago A. Giacaman A, et al. Pediatr Dermatol. 2024 Mar-Apr;41(2):307-310. doi: 10.1111/pde.15436. Epub 2023 Oct 10. Pediatr Dermatol. 2024. PMID: 37817291
Barber-Say syndrome (BSS) is a rare congenital ectodermal dysplasia with few cases reported in the literature. ...
Barber-Say syndrome (BSS) is a rare congenital ectodermal dysplasia with few cases reported in the literature. ...
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.
Haensel J, Kohlschmidt N, Pitz S, Keilmann A, Zenker M, Ullmann R, Haaf T, Bartsch O. Haensel J, et al. Am J Med Genet A. 2009 Oct;149A(10):2236-40. doi: 10.1002/ajmg.a.32993. Am J Med Genet A. 2009. PMID: 19760652
We report on a 7-year-old girl with unequivocal features of Barber-Say syndrome (BSS): generalized hypertrichosis especially at the back, dry lax skin, macrostomia, thin lips, cup-shaped ears, bulbous nose, hypoplastic nipples, and abnormal external genitalia …
We report on a 7-year-old girl with unequivocal features of Barber-Say syndrome (BSS): generalized hypertrichosis espec …