blepharophimosis

Summary

Summary: The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)

Top Publications

  1. Allen C, Rubin P. Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical manifestation and treatment. Int Ophthalmol Clin. 2008;48:15-23 pubmed publisher
  2. Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, et al. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet. 2001;27:159-66 pubmed
    In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure. Type II BPES shows only the eyelid defects, but both types map to chromosome 3q23...
  3. De Baere E, Dixon M, Small K, Jabs E, Leroy B, Devriendt K, et al. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. Hum Mol Genet. 2001;10:1591-600 pubmed
    Mutations in FOXL2, a forkhead transcription factor gene, have recently been shown to cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) types I and II, a rare genetic disorder...
  4. Udar N, Yellore V, Chalukya M, Yelchits S, Silva Garcia R, Small K. Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients. Hum Mutat. 2003;22:222-8 pubmed
    ..548A>G (H104R); g.652G>T (E139X); and g.1178_1185del8 (A314fsX530). In addition we also identified two known mutations g.823C>T (Q196X) and g.1092_1108dup17, the latter in individuals from three unrelated pedigrees...
  5. Beysen D, De Paepe A, De Baere E. FOXL2 mutations and genomic rearrangements in BPES. Hum Mutat. 2009;30:158-69 pubmed publisher
    ..Mutations in FOXL2 are known to cause blepharophimosis syndrome (BPES), an autosomal dominant eyelid malformation associated (type I) or not (type II) with ovarian ..
  6. Kuechler A, Buysse K, Clayton Smith J, Le Caignec C, David A, Engels H, et al. Five patients with novel overlapping interstitial deletions in 8q22.2q22.3. Am J Med Genet A. 2011;155A:1857-64 pubmed publisher
    ..69 to 104.56 Mb; hg18) comprising at least 25 genes. These patients share similar facial dysmorphisms with blepharophimosis, telecanthus, epicanthus, flat malar region, thin upper lip vermillion, down-turned corners of the mouth, and ..
  7. Ramírez Castro J, Pineda Trujillo N, Valencia A, Muneton C, Botero O, Trujillo O, et al. Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families. Am J Med Genet. 2002;113:47-51 pubmed
    We report the genetic characterization of one family with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) type 1 and two families with BPES type 2 from a historically isolated population in northwest Colombia...
  8. De Baere E, Beysen D, Oley C, Lorenz B, Cocquet J, De Sutter P, et al. FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet. 2003;72:478-87 pubmed
    b>Blepharophimosis syndrome (BPES), an autosomal dominant syndrome in which an eyelid malformation is associated (type I) or not (type II) with premature ovarian failure (POF), has recently been ascribed to mutations in FOXL2, a putative ..
  9. Beysen D, Raes J, Leroy B, Lucassen A, Yates J, Clayton Smith J, et al. Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. Am J Hum Genet. 2005;77:205-18 pubmed
    ..In previous mutation studies of the role of FOXL2 in blepharophimosis syndrome (BPES), we identified intragenic mutations in 70% of our patients...

More Information

Publications69

  1. Pandey P, Vats P, Kaur N, Kulkarni A. Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction. Indian J Ophthalmol. 2008;56:343; author reply 343-4 pubmed
  2. Kosaki K, Ogata T, Kosaki R, Sato S, Matsuo N. A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid. Ophthalmic Genet. 2002;23:43-7 pubmed
    b>Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES) is an autosomal dominant disorder characterized by abnormalities of the eyelids...
  3. Pariani M, Spencer A, Graham J, Rimoin D. A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis. Eur J Med Genet. 2009;52:123-7 pubmed publisher
    ..including the genes FOXP1, EIF4E3, PROK2, GPR27 resulting in speech delay, contractures, hypertonia and blepharophimosis. FOXP1 and FOXP2 are transcription factors containing a polyglutamine tract and a forkhead DNA binding domain...
  4. Dollfus H, Stoetzel C, Riehm S, Lahlou Boukoffa W, Bediard Boulaneb F, Quillet R, et al. Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle. Clin Genet. 2003;63:117-20 pubmed
    The analysis of the FOXL2 gene (3q23) in a series of two families and two sporadic cases affected with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) is presented...
  5. Loffler K, Zarkower D, Koopman P. Etiology of ovarian failure in blepharophimosis ptosis epicanthus inversus syndrome: FOXL2 is a conserved, early-acting gene in vertebrate ovarian development. Endocrinology. 2003;144:3237-43 pubmed
    b>Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a human disorder caused by mutations in the forkhead transcription factor gene FOXL2 and is characterized by facial dysmorphology combined in some cases with ovarian failure...
  6. Alao M, Laleye A, Lalya F, Hans C, Abramovicz M, Morice Picard F, et al. Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female. Eur J Med Genet. 2012;55:630-4 pubmed publisher
    b>Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disorder whose main features are the abnormal shape, position and alignment of the eyelids...
  7. Leal G, Silva E, Duarte A, Campos J. Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome?. Am J Med Genet A. 2008;146A:1059-62 pubmed publisher
  8. D Haene B, Nevado J, Pugeat M, Pierquin G, Lowry R, Reardon W, et al. FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions. Hum Mutat. 2010;31:E1332-47 pubmed publisher
    b>Blepharophimosis Syndrome (BPES) is an autosomal dominant developmental disorder of the eyelids with or without ovarian dysfunction caused by FOXL2 mutations. Overall, FOXL2deletions represent 12% of all genetic defects in BPES...
  9. Dawson E, Hardy T, Collin J, Lee J. The incidence of strabismus and refractive error in patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). Strabismus. 2003;11:173-7 pubmed
    A retrospective review was carried out of 204 patients with blepharophimosis, (blepharo) ptosis and epicanthus inversus syndrome (BPES). Of these, 94 (46%) had an autosomal dominant family history of BPES...
  10. Lim B, Park W, Seo E, Kim K, Hwang Y, Chae J. De novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 in a patient with blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay. J Child Neurol. 2011;26:615-8 pubmed publisher
    ..The clinical phenotype of this case included blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay...
  11. Fokstuen S, Antonarakis S, Blouin J. FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients. Am J Med Genet A. 2003;117A:143-6 pubmed
    Mutations in the forkhead transcription factor gene 2 (FOXL2) were recently reported to cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) types I and II...
  12. Bell R, Murday V, Patton M, Jeffery S. Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2. Genet Test. 2001;5:335-8 pubmed
    b>Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES) is an autosomal dominant disorder that is characterized by distinctive eyelid abnormalities...
  13. Beysen D, De Jaegere S, Amor D, Bouchard P, Christin Maitre S, Fellous M, et al. Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. Hum Mutat. 2008;29:E205-19 pubmed publisher
    b>Blepharophimosis syndrome (BPES) is caused by loss-of-function mutations in the single-exon forkhead transcription factor gene FOXL2 and by genomic rearrangements of the FOXL2 locus...
  14. Wang J, Liu J, Zhang Q. FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. Mol Vis. 2007;13:108-13 pubmed
    b>Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant disorder where eyelid malformation associated with (type I) or without (type II) premature ovarian failure (POF)...
  15. Li D, Zeng W, Tao J, Li S, Liang C, Chen X, et al. Mutations of the transcription factor FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. Genet Test Mol Biomarkers. 2009;13:257-68 pubmed publisher
    b>Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant syndrome of eyelid malformations with (type I) or without (type II) associated premature ovarian failure...
  16. Haghighi A, Verdin H, Haghighi Kakhki H, Piri N, Gohari N, De Baere E. Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II. Mol Vis. 2012;18:211-8 pubmed
    b>Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a developmental disease characterized by a complex eyelid malformation associated or not with premature ovarian failure (POF)...
  17. de Ru M, Gille J, Nieuwint A, Bijlsma J, van der Blij J, van Hagen J. Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature. Am J Med Genet A. 2005;137:81-7 pubmed
    We present a boy with blepharophimosis, ptosis, epicanthus inversus, microcephaly, mild mental retardation, and growth delay. Chromosomal analysis revealed a male karyotype with an interstitial deletion in the long arm of chromosome 3...
  18. Kaur I, Hussain A, Naik M, Murthy R, Honavar S. Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients. Br J Ophthalmol. 2011;95:881-6 pubmed publisher
    The fork-head transcription factor gene (FOXL2) gene has been implicated in Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) type I and type II...
  19. Maw M, Kar B, Biswas J, Biswas P, Nancarrow D, Bridges R, et al. Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p. Hum Mol Genet. 1996;5:2049-54 pubmed
    b>Blepharophimosis syndrome (BPES) is an autosomal dominant disorder involving abnormal eyelid development. Cytogenetic and linkage analyses have previously implicated the chromosome 3q23 region in multiple cases of this syndrome...
  20. Decock C, Claerhout I, Leroy B, Kesteleyn P, Shah A, De Baere E. Correction of the lower eyelid malpositioning in the blepharophimosis-ptosis-epicanthus inversus syndrome. Ophthalmic Plast Reconstr Surg. 2011;27:368-70 pubmed publisher
    b>Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant complex eyelid malformation...
  21. Zhang Y, Kao W, Pelosi E, Schlessinger D, Liu C. Notch gain of function in mouse periocular mesenchyme downregulates FoxL2 and impairs eyelid levator muscle formation, leading to congenital blepharophimosis. J Cell Sci. 2011;124:2561-72 pubmed publisher
    ..mesenchymal cells (POMCs), which contribute to the formation of corneal and eyelid stroma, results in blepharophimosis. Compound transgenic mice overexpressing the Notch1 intracellular domain (N1-ICD) in POMCs (POMC(N1-ICD)) ..
  22. Cunniff C, Curtis M, Hassed S, Hoyme H. Blepharophimosis: a causally heterogeneous malformation frequently associated with developmental disabilities. Am J Med Genet. 1998;75:52-4 pubmed
    We report on 22 individuals referred for genetic evaluation because of blepharophimosis. Fourteen of these patients had the blepharophimosis syndrome: 5 familial and 9 sporadic...
  23. Fan J, Wang Y, Han B, Ji Y, Song H, Fan X. FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES). Transl Res. 2011;157:48-52 pubmed publisher
    b>Blepharophimosis syndrome (BPES) is a rare, autosomal dominant disease. Two clinical types of BPES have been distinguished...
  24. Huang W, Qiao Q, Zhao R, Wang X, Fang X. Surgical strategy for congenital blepharophimosis syndrome. Chin Med J (Engl). 2007;120:1413-5 pubmed
    So far, most of the surgical techniques for congenital blepharophimosis syndrome are two-stage procedures. In this study, we investigated a modified one-stage procedure to reduce the suffering of patients.
  25. Decock C, De Baere E, Bauters W, Shah A, Delaey C, Forsyth R, et al. Insights into levator muscle dysfunction in a cohort of patients with molecularly confirmed blepharophimosis-ptosis-epicanthus inversus syndrome using high-resolution imaging, anatomic examination, and histopathologic examination. Arch Ophthalmol. 2011;129:1564-9 pubmed publisher
    To study the basis of defective levator palpebrae superioris (LPS) function in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), an autosomal dominant eyelid malformation sometimes associated with ovarian dysfunction.
  26. Vedantham V, Jethani J, Agarwal A, Vijayalakshmi P. Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction: a new syndrome complex?. Indian J Ophthalmol. 2007;55:150-1 pubmed
    A 15-year-old girl with retinitis pigmentosa, blepharophimosis, blue dot cataract and primary overaction of inferior oblique muscle in both the eyes is being reported...
  27. Nallathambi J, Moumné L, De Baere E, Beysen D, Usha K, Sundaresan P, et al. A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction. Hum Genet. 2007;121:107-12 pubmed
    The blepharophimosis syndrome (BPES) is an autosomal dominant developmental disorder in which craniofacial/eyelid malformations are associated (type I) or not (type II) with premature ovarian failure (POF)...
  28. Raile K, Stobbe H, Tröbs R, Kiess W, Pfaffle R. A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome. Eur J Endocrinol. 2005;153:353-8 pubmed
    b>Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), an autosomal dominant syndrome in which eyelid malformation is associated with (type I BPES) or without premature ovarian failure (type II BPES)...
  29. Verloes A, Bremond Gignac D, Isidor B, David A, Baumann C, Leroy M, et al. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. Am J Med Genet A. 2006;140:1285-96 pubmed
    We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype...
  30. De Baere E, Fukushima Y, Small K, Udar N, Van Camp G, Verhoeven K, et al. Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES. Genomics. 2000;68:296-304 pubmed
    The blepharophimosis syndrome (BPES) is a rare genetic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus...
  31. Parmar R, Muranjan M. A newly recognized syndrome with double upper and lower lip, hypertelorism, eyelid ptosis, blepharophimosis, and third finger clinodactyly. Am J Med Genet A. 2004;124A:200-1 pubmed
    ..We report a 21-year-old male with double upper and lower lip, hypertelorism, unilateral ptosis, blepharophimosis, and broad nose with broad nasal tip, highly arched palate, and bilateral third finger clinodactyly...
  32. Gonzalez Gonzalez C, Garcia Hoyos M, Hernaez Calzón R, Arroyo Díaz C, González Fanego C, Lorda Sanchez I, et al. Microdeletion found by array-CGH in girl with blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25). Ophthalmic Genet. 2012;33:107-10 pubmed publisher
    b>Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) is a rare autosomal dominant congenital disorder. Mutations in FOXL2, a gene located at 3q23, have been shown to cause the syndrome...
  33. De Baere E, Copelli S, Caburet S, Laissue P, Beysen D, Christin Maitre S, et al. Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction. Pediatr Endocrinol Rev. 2005;2:653-60 pubmed
    Recently the molecular basis of the blepharophimosis-ptosis-epicanthus inversus-syndrome (BPES), an autosomal dominant developmental disorder of the eyelids and ovary, was elucidated...
  34. Vincent A, Watkins W, Sloan B, Shelling A. Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation. Clin Genet. 2005;68:520-3 pubmed
    This case describes the novel coexistence of sporadic blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and bilateral type I Duane syndrome in a female infant, with a FOXL2 mutation...
  35. Tang S, Wang X, Lin L, Sun Y, Wang Y, Yu H. Mutation analysis of the FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. Mutagenesis. 2006;21:35-9 pubmed
    b>Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant disorder characterized by blepharophimosis, ptosis and epicanthus inversus...
  36. Or S, Tong M, Lo F, Lam T. Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. Chin Med J (Engl). 2006;119:49-52 pubmed
  37. Nallathambi J, Laissue P, Batista F, Benayoun B, Lesaffre C, Moumné L, et al. Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients. Hum Mutat. 2008;29:E123-31 pubmed publisher
    Mutations of the transcription factor FOXL2, involved in cranio-facial and ovarian development lead to the Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) in human...
  38. Wu S, Ma L, Tsai Y, Kuo J. One-stage correction for blepharophimosis syndrome. Eye (Lond). 2008;22:380-8 pubmed
    To classify the severity of blepharophimosis, describe associated features and their effects on the incidence of amblyopia and to recommend guidelines for surgical treatment and management of surgical complications.
  39. D Haene B, Attanasio C, Beysen D, Dostie J, Lemire E, Bouchard P, et al. Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening. PLoS Genet. 2009;5:e1000522 pubmed publisher
    ..disease we studied the involvement of genetic changes of CNCs in the cis-regulatory domain of FOXL2 in blepharophimosis syndrome (BPES)...
  40. Beysen D, Vandesompele J, Messiaen L, De Paepe A, De Baere E. The human FOXL2 mutation database. Hum Mutat. 2004;24:189-93 pubmed
    b>Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES; MIM# 110100) is an autosomal dominant genetic condition in which an eyelid malformation is associated (type I) or not associated (type II) with premature ovarian failure (POF)...
  41. Kumar A, Babu M, Raghunath A, Venkatesh C. Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C). Mol Vis. 2004;10:445-9 pubmed
    b>Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare eye genetic disorder caused by mutations in the FOXL2 gene located at chromosome 3q23...
  42. Cha S, Jang Y, Lee J, Kim H, Kim S, Kim S, et al. Mutational analysis of forkhead transcriptional factor 2 (FOXL2) in Korean patients with blepharophimosis-ptosis-epicanthus inversus syndrome. Clin Genet. 2003;64:485-90 pubmed
    ..for mutations in the forkhead transcription factor gene, FOXL2, in Korean patients with sporadic or familial blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) by polymerase chain reaction-single-stranded conformation ..
  43. Nallathambi J, Neethirajan G, Usha K, Jitendra J, De Baere E, Sundaresan P. FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome. J Genet. 2007;86:165-8 pubmed
  44. Basel Vanagaite L, Dallapiccola B, Ramirez Solis R, Segref A, Thiele H, Edwards A, et al. Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet. 2012;91:998-1010 pubmed publisher
    ..biallelic UBE3B mutations in four patients from three unrelated families presenting an autosomal-recessive blepharophimosis-ptosis-intellectual-disability syndrome characterized by developmental delay, growth retardation with a small ..
  45. Beysen D, Moumné L, Veitia R, Peters H, Leroy B, De Paepe A, et al. Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation. Hum Mol Genet. 2008;17:2030-8 pubmed publisher
    Mutations of the FOXL2 gene have been shown to cause blepharophimosis syndrome (BPES), characterized by an eyelid malformation associated with premature ovarian failure or not...
  46. Jin H, Won M, Park S, Lee S, Park M, Bae J. FOXL2 Is an Essential Activator of SF-1-Induced Transcriptional Regulation of Anti-Müllerian Hormone in Human Granulosa Cells. PLoS ONE. 2016;11:e0159112 pubmed publisher
    ..FOXL2 is an evolutionally conserved transcription factor, and its mutations cause blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), wherein affected females display eyelid defects and ..
  47. Elzaiat M, Todeschini A, Caburet S, Veitia R. The genetic make-up of ovarian development and function: the focus on the transcription factor FOXL2. Clin Genet. 2017;91:173-182 pubmed publisher
    ..Special attention is paid to FOXL2 whose mutations are responsible for the blepharophimosis syndrome, often associated with female infertility, and for cancer...
  48. Vulto van Silfhout A, de Vries B, van Bon B, Hoischen A, Ruiterkamp Versteeg M, Gilissen C, et al. Mutations in MED12 cause X-linked Ohdo syndrome. Am J Hum Genet. 2013;92:401-6 pubmed publisher
    ..group of disorders characterized by intellectual disability (ID) and typical facial features, including blepharophimosis. Clinically, these blepharophimosis-ID syndromes have been classified in five distinct subgroups, including ..
  49. Chaudhry T, Khalid M, Saleem T, Ahmad K. Blepharophimosis-ptosis-epicanthus inversus syndrome in a Pakistani pedigree. J Coll Physicians Surg Pak. 2010;20:285-6 pubmed publisher
    b>Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare developmental ocular disorder. We report this condition affecting 4 members of a Pakistani family across three generations...
  50. Ni F, Wen Q, Wang B, Zhou S, Wang J, Mu Y, et al. Mutation analysis of FOXL2 gene in Chinese patients with premature ovarian failure. Gynecol Endocrinol. 2010;26:246-9 pubmed publisher
    ..has recently been associated with mutations in Forkhead L2 (FOXL2) gene, which also being a candidate for blepharophimosis-ptosis-epicanthus inversus (BPES) syndrome...
  51. Kobus K, Wojcicki P, Wysocki M. [Orbitoblepharophimosis syndrome--own clinical experience in treatment of 60 patients]. Klin Oczna. 2008;110:166-71 pubmed
    ..We retrospectively reviewed the records of 60 patients with blepharophimosis who underwent surgery in the Hospital of Plastic Surgery in Polanica Zdrój from January 1975 to January 2006...
  52. Szakszon K, Salpietro C, Kakar N, Knegt A, Olah E, Dallapiccola B, et al. De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome. Am J Med Genet A. 2013;161A:884-8 pubmed publisher
    The Say-Barber/Biesecker/Young-Simpson (SBBYS) type of the blepharophimosis-mental retardation syndrome group (Ohdo-like syndromes) is a multiple congenital malformation syndrome characterized by vertical narrowing and shortening of the ..
  53. Caburet S, Georges A, L hôte D, Todeschini A, Benayoun B, Veitia R. The transcription factor FOXL2: at the crossroads of ovarian physiology and pathology. Mol Cell Endocrinol. 2012;356:55-64 pubmed publisher
    ..Its mutations or misregulation have been shown to cause the blepharophimosis-ptosis-epicanthus inversus (BPES) syndrome and more recently have been associated with the development of ..
  54. Lin L, Tang S, Wang X, Sun Y, Wang Y. [Mutation analysis of FOXL2 gene and its structure protein in patients of blepharophimosis-ptosis-epicanthus inversus syndrome]. Zhonghua Yan Ke Za Zhi. 2007;43:535-9 pubmed
    ..the effect of mutations of the forkhead transcription factor 2 (FOXL2) gene on the primary and secondary structure of the coded protein and seek for the molecular mechanism of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
  55. Lesca G, Moizard M, Bussy G, Boggio D, Hu H, Haas S, et al. Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. Am J Med Genet A. 2013;161A:3063-71 pubmed publisher
    ..In a cognitively impaired male from this family, who also presented with tall stature and dysmorphism and did not have the MED12 mutation, a 600-kb duplication at 17p13.3 including the YWHAE gene, was found in a mosaic state...
  56. Titomanlio L, Bennaceur S, Bremond Gignac D, Baumann C, Dupuy O, Verloes A. Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?. Am J Med Genet A. 2005;137A:332-5 pubmed
    We report on a 3-year-old girl with Michels syndrome, a rare condition characterized by craniosynostosis, blepharophimosis, ptosis, epicanthus inversus, cleft lip/palate, abnormal supra-umbilical abdominal wall, and mental deficiency...
  57. Gil da Silva Lopes V, Guion Almeida M, de Oliveira Rodini E. Blepharocheilodontic (BCD) syndrome: expanding the phenotype?. Am J Med Genet A. 2003;121A:266-70 pubmed
    ..The broadened phenotype and the possibility of involvement of p63 and IRF6 genes in this condition are discussed...
  58. Liu C. Wakayama Symposium: Notch-FoxL2-?-SMA axis in eyelid levator muscle development and congenital blepharophimosis. Ocul Surf. 2012;10:221-3 pubmed publisher
    ..pathway in regulating normal eyelid morphogenesis and its role in the pathogenesis of human congenital blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)...
  59. Tang S, Wang X, Wang Y, Lin L, Sun Y. [The mutation study of the FOXL2 gene in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome]. Zhonghua Zheng Xing Wai Ke Za Zhi. 2007;23:48-50 pubmed
    We have studied 4 generations 12 patients in a family which has blepharophimosis-ptosis-epicanthus-inversus syndrome (BPES) for the gene, FOXL2, the group also have 12 normal members in this family and other 80 normal individuals for ..
  60. De Sanctis U, Alovisi C, Actis A, Vinai L, Penna R, Fea A, et al. Blepharoptosis. Minerva Chir. 2013;68:37-47 pubmed
    ..Ptosis can usually be corrected surgically. The article discusses guidelines for the choice of intervention. Various different surgical techniques are also presented, together with results and complications. ..