References
- McCarthy GT, West CM. Ablepharon macrostomia syndrome. Dev Med Child Neurol. 1977; 19:659–72.
- O’Neill M. Ablepharon macrostomia syndrome; AMS (#200110) [Internet]. [cited 2019 Sep 14]. Available from: https://www.omim.org/entry/200110
- Hornblass A, Reifler DM. Ablepharon macrostomia syndrome. Am J Ophthalmol. 1985; 99:552–6.
- Cesarino EJ, Pinheiro M, Freire-Maia N, Meira-Silva MC. Lid agenesis-macrostomia-psychomotor retardation-forehead hypertrichosis—a new syndrome? Am J Med Genet. 1988; 31:299–304.
- Jackson IT, Shaw K, del Pinal Matorras F. A new feature of the ablepharon macrostomia syndrome: zygomatic arch absence. Br J Plast Surg. 1988; 41:410–5.
- Markouizos D, Siddiqi U, Siddiqi S, Raziuddin K, Nangia B. Ablepharon macrostomia syndrome: report of a case and clinical delineation. Am J Med Genet. 1990; 47(Suppl):A66.
- Price NJ, Pugh RE, Farndon PA, Willshaw HE. Ablepharon macrostomia syndrome. Br J Ophthalmol. 1991; 75:317–9.
- Cruz AA, Guimarães FC, Obeid HN, Ferraz VE, Noce TR, Martinez FE. Congenital shortening of the anterior lamella of all eyelids: the so-called ablepharon macrostomia syndrome. Ophthal Plast Reconstr Surg. 1995; 11:284–7.
- Pellegrino JE, Schnur RE, Boghosian-Sell L, Strathdee G, Overhauser J, Spinner NB, et al. Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q. Hum Genet. 1996; 97:532–6.
- Ferraz VEF, Melo DG, Hansing SE, Cruz AA, Pina-Neto JM. Ablepharon-macrostomia syndrome: first report of familial occurrence. Am J Med Genet. 2000; 283:281–3.
- Amor DJ, Savarirayan R. Intermediate form of ablepharon–macrostomia syndrome with CNS abnormalities. Am J Med Genet. 2001; 103:252–4.
- Stevens CA, Sargent LA. Ablepharon-macrostomia syndrome. Am J Med Genet. 2002; 107:30–7.
- Brancati F, Mingarelli R, Sarkozy A, Dallapiccola B. Ablepharonmacrostomia syndrome in a 46-year-old woman. Am J Med Genet. 2004; 127A:96–8.
- Cavalcanti DP, Matejas V, Luquetti D, Mello MF, Zenker M. Fraser and ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1. Am J Med Genet Part A. 2007; 143A:241–7.
- Kallish S, Mcdonald-Mcginn DM, van Haelst MM, Bartlett SP, Katowitz JA, Zackai EH. Ablepharon–macrostomia syndrome—extension of the phenotype. Am J Med Genet Part A. 2011; 155:3060–2.
- Rohena L, Kuehn D, Marchegiani S, Higginson JD. Evidence for autosomal dominant inheritance of ablepharon–macrostomia syndrome. Am J Med Genet Part A. 2011; 155:850–4.
- Larumbe J, Villalta P, Velez I. Clinical variant of ablepharon macrostomia syndrome. Case Rep Dermatol Med. 2011; 2011:593045. doi: 10.1155/2011/593045
- Feinstein E, Traish AS, Aakalu V, Kassem IS. A case report of ablepharon-macrostomia syndrome with amniotic membrane grafting. Case Rep Ophthalmol. 2015; 6:366–72.
- Marchegiani S, Davis T, Tessadori F, Van Haaften G, Brancati F, Hoischen A, et al. Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes. Am J Hum Genet. 2015; 97:99–110.
- De Maria B, Mazzanti L, Roche N, Hennekam RC. Barber–Say syndrome and ablepharon–macrostomia syndrome: an overview. Am J Med Genet Part A. 2016; 170:1989–2001.
- Hollanders K, Casteels I, Vandelanotte S, Reyniers R, Segers K, Nevens T, Mombaerts I. Use of the masquerade flap in ablepharon–macrostomia syndrome: a case report. Cornea. 2018; 37:929–32.
- Fenton TR, Kim JH. A systematic review and meta-analysis to revise the Fenton growth chart for preterm infants. BMC Pediatr. 2013; 13:59. doi: 10.1186/1471-2431-13-59
- O’Neill MF. Barber-Say syndrome; BBRSAY (# 209885). [Internet]. [cited 2019 Sep 14]. Available from: https://www.omim.org/entry/209885
- O’Neill MF. Focal facial dermal dysplasia 3, Setleis type; FFDD3 (# 227260). [Internet]. [cited 2019 Sep 14]. Available from: https://www.omim.org/entry/227260
- Lee BH, Aggarwal A, Slavotinek A, Edelmann L, Chen B, Desnick RJ. The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity. J Med Genet. 2017; 54:585–90.
- Ayaz A, Yalcintepe S, Ozalp Yuregir O, Sahin Y, Ozer A, Eser M, Celik U. The TWIST2 mutation causes Setleis syndrome: a rare clinical case report. Clin Dysmorphol. 2017; 26:128–31.
- Weaver DD, Norby AR, Rosenfeld JA, Proud VK, Spangler BE, Ming JE, et al. Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III). Am J Med Genet A. 2015; 167A:1061–70.
- Lee BH, Kasparis C, Chen B, Mei H, Edelmann L, Moss C, et al. Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance. J Hum Genet. 2015; 60:717–22.