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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 …
Long-Term Results of the Surgical Management of the Upper Eyelids in "Ablepharon"-Macrostomia Syndrome.
Cruz AAV, Quiroz D, Boza T, Wambier SPF, Akaishi PS. Cruz AAV, et al. Ophthalmic Plast Reconstr Surg. 2020 Jan/Feb;36(1):21-25. doi: 10.1097/IOP.0000000000001442. Ophthalmic Plast Reconstr Surg. 2020. PMID: 31373987
PURPOSE: To describe the late results of the placement of skin graft over conjunctiva-Muller muscle complex in 3 patients with ablepharon-macrostomia syndrome (AMS) and to review the procedures used to manage the upper eyelids in AMS. ...Full thickness skin g …
PURPOSE: To describe the late results of the placement of skin graft over conjunctiva-Muller muscle complex in 3 patients with ablepharon …
Cryptophthalmos: associated syndromes and genetic disorders.
Landau-Prat D, Kim DH, Bautista S, Strong A, Revere KE, Katowitz WR, Katowitz JA. Landau-Prat D, et al. Ophthalmic Genet. 2023 Dec;44(6):547-552. doi: 10.1080/13816810.2023.2237568. Epub 2023 Jul 26. Ophthalmic Genet. 2023. PMID: 37493047
Ablepharon-Macrostomia syndrome--extension of the phenotype.
Kallish S, McDonald-McGinn DM, van Haelst MM, Bartlett SP, Katowitz JA, Zackai EH. Kallish S, et al. Am J Med Genet A. 2011 Dec;155A(12):3060-2. doi: 10.1002/ajmg.a.34287. Epub 2011 Oct 14. Am J Med Genet A. 2011. PMID: 22002929
Ablepharon-Macrostomia syndrome (AMS) is a rare collection of findings characterized by absent or hypoplastic eyelids, fusion defects of the mouth with unfused lateral commissures, abnormal ears, ambiguous genitalia, skin differences including dry and coarse …
Ablepharon-Macrostomia syndrome (AMS) is a rare collection of findings characterized by absent or hypoplastic eyelids, …
Ablepharon macrostomia syndrome: Absent prepuce in the first case report in West Africa.
Nwaneli EI, Chukwuka JO, Uju CM, Epundu CO. Nwaneli EI, et al. Niger Postgrad Med J. 2021 Oct-Dec;28(4):298-302. doi: 10.4103/npmj.npmj_318_20. Niger Postgrad Med J. 2021. PMID: 34850759
Ablepharon macrostomia syndrome (AMS) is an extremely rare congenital ectodermal dysplastic disease characterised by craniofacial, skin, skeletal and genital abnormalities. ...
Ablepharon macrostomia syndrome (AMS) is an extremely rare congenital ectodermal dysplastic disease characterised by cr …
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, and ablepharon …
Heterozygous localized TWIST1 and TWIST2 basic domain substitutions exert antimorphic effects to cause Sweeney-Cox syndrome, Barber-Say synd …
Laryngo-tracheal stenosis in a woman with ablepharon macrostomia syndrome.
Ciriaco P, Carretta A, Negri G. Ciriaco P, et al. BMC Pulm Med. 2019 Aug 28;19(1):163. doi: 10.1186/s12890-019-0921-8. BMC Pulm Med. 2019. PMID: 31462237 Free PMC article.
BACKGROUND: Ablepharon macrostomia syndrome (AMS) is a rare congenital malformation disorder caused by the autosomal-dominant mutations in gene TWIST2. ...
BACKGROUND: Ablepharon macrostomia syndrome (AMS) is a rare congenital malformation disorder caused by the autosomal-do …
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
., absent or hypoplastic eyelids) have always been considered as hallmarks of ablepharon macrostomia syndrome (AMS). This is the first report of microblepharon in BSS. ...
., absent or hypoplastic eyelids) have always been considered as hallmarks of ablepharon macrostomia syndrome (AMS). Th …
Ablepharon-macrostomia syndrome in a 46-year-old woman.
Brancati F, Mingarelli R, Sarkozy A, Dallapiccola B. Brancati F, et al. Am J Med Genet A. 2004 May 15;127A(1):96-98. doi: 10.1002/ajmg.a.20658. Am J Med Genet A. 2004. PMID: 15103726
Ablepharon-macrostomia syndrome (AMS) is a rare condition reported to date in 13 patients worldwide. ...
Ablepharon-macrostomia syndrome (AMS) is a rare condition reported to date in 13 patients worldwide. ...
Ablepharon-macrostomia syndrome: first report of familial occurrence.
Ferraz VE, Melo DG, Hansing SE, Cruz AA, Pina-Neto JM. Ferraz VE, et al. Am J Med Genet. 2000 Oct 2;94(4):281-3. doi: 10.1002/1096-8628(20001002)94:4<281::aid-ajmg3>3.0.co;2-s. Am J Med Genet. 2000. PMID: 11038439
Ablepharon-macrostomia syndrome (AMS) is a rare condition comprising severe deficiency of the anterior lamella of both eyelids, abnormal ears, macrostomia, anomalous genitalia, redundant skin, and absence of lanugo. ...
Ablepharon-macrostomia syndrome (AMS) is a rare condition comprising severe deficiency of the anterior lamella of both …
11 results