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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. ...Scalp hair is sparse in AMS only, but sparse eyebrows and eyelashes occur in both entities, and gen
Barber-Say syndrome (BSS) and Ablepharon-Macrostomia syndrome (AMS) are congenital malformation syndromes caused
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View.
De Maria B, de Jager T, Sarubbi C, Bartsch O, Bianchi A, Brancati F, Chung HB, David A, Kariminejad A, Foresti M, Gallottini M, Isidor B, Marchegiani S, Martins F, Mazzanti L, Roche N, Singh A, Stevens C, Suga K, Zenker M, Hennekam RC. De Maria B, et al. Mol Syndromol. 2017 Jun;8(4):172-178. doi: 10.1159/000472408. Epub 2017 Apr 27. Mol Syndromol. 2017. PMID: 28690482 Free PMC article.
Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the TWIST2 gene. ...
Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malform
Barber Say Syndrome (A New Case Report).
Rezaei M, Zamani S, Haghighinejad H. Rezaei M, et al. Indian Dermatol Online J. 2019 Mar-Apr;10(2):158-161. doi: 10.4103/idoj.IDOJ_68_18. Indian Dermatol Online J. 2019. PMID: 30984591 Free PMC article.
Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and macrostomia. A literature review showed less than 20 previousl
Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized
The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.
Lee BH, Aggarwal A, Slavotinek A, Edelmann L, Chen B, Desnick RJ. Lee BH, et al. J Med Genet. 2017 Sep;54(9):585-590. doi: 10.1136/jmedgenet-2017-104561. Epub 2017 Jun 29. J Med Genet. 2017. PMID: 28663233 Review.
In addition, the overlapping facial abnormalities in FFDD3 and two other genetic disorders, Ablepharon macrostomia syndrome and Barber-Say syndrome, are noted. Familiarity with the FFDDs by clinicians will further delineate the phenotypes and genetic/d …
In addition, the overlapping facial abnormalities in FFDD3 and two other genetic disorders, Ablepharon macrostomia syndrome and Ba
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 7-year-old female with multiple congenital anomalies such mammary gland hypoplasia, hypertrichosis, ectropion, and redundant s
A previously unreported case of Barber-Say syndrome is described with special attention to dental manifestations. A 7-y …
Ablepharon-macrostomia syndrome.
Stevens CA, Sargent LA. Stevens CA, et al. Am J Med Genet. 2002 Jan 1;107(1):30-7. doi: 10.1002/ajmg.10123. Am J Med Genet. 2002. PMID: 11807864
These four patients, as well as those previously reported, all had absent hair, brows, and lashes, absent or short eyelids, macrostomia, ear anomalies, redundant skin, and abnormal genitalia. ...This report contributes to our knowledge regarding the natural history …
These four patients, as well as those previously reported, all had absent hair, brows, and lashes, absent or short eyelids, macrostomia
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.
The case is presented of a 2-day-old male child in whom ectropion, hypertelorism, hypertrichosis and other dysmorphic features led to the clinical diagnosis of Barber-Say syndrome, which was later confirmed with genetic tests. ...This is the fir …
The case is presented of a 2-day-old male child in whom ectropion, hypertelorism, hypertrichosis and other dysmorphic features …
[Barber-Say syndrome].
Makita Y. Makita Y. Ryoikibetsu Shokogun Shirizu. 2001;(33):250. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462424 Review. Japanese. No abstract available.
Barber-say syndrome: a confirmed case of TWIST2 gene mutation.
Yohannan MD, Hilgeman J, Allsbrook K. Yohannan MD, et al. Clin Case Rep. 2017 Jun 2;5(7):1167-1169. doi: 10.1002/ccr3.1014. eCollection 2017 Jul. Clin Case Rep. 2017. PMID: 28680619 Free PMC article.
Barber-Say syndrome is a rare disorder characterized by hypertrichosis, redundant skin, and facial dysmorphism. ...
Barber-Say syndrome is a rare disorder characterized by hypertrichosis, redundant skin, and facial dysmor
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. We describe a 9-year-old boy with congenital generalized hypertrichosis and multiple rhabdomyomatous mesenchymal hamartomas (RMHs) on his nos
Barber-Say syndrome (BSS) is a rare congenital ectodermal dysplasia with few cases reported in the literature. We descr
29 results