Congenital Epicanthus and Ptosis.
Sattler R.
Trans Am Ophthalmol Soc. 1897;8:96-9.
Blepharophimosis Syndrome.
Neuhouser AJ, Zeppieri M, Harrison AR.
2024 Nov 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
Wolf-Hirschhorn Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
Battaglia A, Carey JC, South ST.
2002 Apr 29 [updated 2015 Aug 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
A rare association of blepharophimosis-ptosis-epicanthus inversus case with congenital nasolacrimal duct obstruction.
Gupta N, Ganesh S, Singla P, Kumar S.
Eur J Ophthalmol. 2021 Mar;31(2):NP8-NP11. doi: 10.1177/1120672119886427. Epub 2019 Nov 22.
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.
EPICANTHUS AND TELECANTHUS.
MUSTARDE JC.
Br J Plast Surg. 1963 Oct;16:346-56. doi: 10.1016/s0007-1226(63)80139-3.
Management of congenital lacrimal gland agenesis in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Delle Fave M, Cordonnier M, Polyanina M, Kallay O.
J Fr Ophtalmol. 2021 Mar;44(3):e159-e161. doi: 10.1016/j.jfo.2020.06.007. Epub 2021 Jan 8.
Epicanthus and epiblepharon.
Johnson CC.
Arch Ophthalmol. 1978 Jun;96(6):1030-3. doi: 10.1001/archopht.1978.03910050554013.
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study; Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study; Férec C, Yang XJ…
Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28.
Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).
Gulati R, Verdin H, Halanaik D, Bhat BV, De Baere E.
Eur J Med Genet. 2014 Oct;57(10):576-8. doi: 10.1016/j.ejmg.2014.08.004. Epub 2014 Sep 2.
