Blepharophimosis Syndrome.
Neuhouser AJ, Zeppieri M, Harrison AR.
2024 Nov 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
Blepharophimosis.
FOX SA.
Am J Ophthalmol. 1963 Mar;55:469-75.
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.
Sarli C, van der Laan L, Reilly J, Trajkova S, Carli D, Brusco A, Levy MA, Relator R, Kerkhof J, McConkey H, Tedder ML, Skinner C, Alders M, Henneman P, Hennekam RCM, Ciaccio C, D'Arrigo S, Vitobello A, Faivre L, Weber S, Vincent-Devulder A, Perrin L, Bourgois A, Yamamoto T, Metcalfe K, Zollino M, Kini U, Oliveira D, Sousa SB, Williams D, Cappuccio G, Sadikovic B, Brunetti-Pierri N.
Am J Med Genet C Semin Med Genet. 2024 Dec;196(4):e32089. doi: 10.1002/ajmg.c.32089. Epub 2024 Jun 17.
The blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Tyers AG.
Orbit. 2011 Oct;30(5):199-201. doi: 10.3109/01676830.2010.547266.
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Strømme P, Sandboe F.
Acta Ophthalmol Scand. 1996 Feb;74(1):45-7. doi: 10.1111/j.1600-0420.1996.tb00680.x.
[Blepharophimosis, epicanthus inversus, and ptosis syndrome(BPES)].
Inazawa J, Fukushima Y.
Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):274-6.
Blepharophimosis-ptosis-epicanthus inversus syndrome.
Graziadio C, de Moraes FN, Rosa RF, Zen PR, Travi GM, Waldman C, Medina CT, De Baere E, Paskulin GA.
Pediatr Int. 2011 Jun;53(3):390-2. doi: 10.1111/j.1442-200X.2010.03223.x.
[Blepharophimosis-ptosis-epicanthus inversus syndrome].
Lišková P, Ďuďáková Ľ, Diblík P.
Cesk Slov Oftalmol. 2016 Fall;72(5):187-190.
The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome.
Méjécase C, Nigam C, Moosajee M, Bladen JC.
Genes (Basel). 2021 Mar 4;12(3):364. doi: 10.3390/genes12030364.
A case of blepharophimosis: Freeman Sheldon syndrome.
Bowman S, Noble G, Rahmani B, Mets M, Ralay Ranaivo H, Castelluccio V.
Ophthalmic Genet. 2022 Feb;43(1):130-133. doi: 10.1080/13816810.2021.1989603. Epub 2021 Oct 19.
