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. doi Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical manifestation and treatment
    Calliope E Allen
    Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA
    Int Ophthalmol Clin 48:15-23. 2008
  2. ncbi Skeletal manifestations in Ohdo syndrome: a case with bilateral patella dislocations
    Ruth Day
    Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children s Hospital, Eaton Road, Liverpool L12 2AP, UK
    Clin Dysmorphol 13:17-9. 2004
  3. ncbi [Mutation analysis of FOXL2 in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome]
    Yan hua Qi
    Department of Ophthalmology, Second Affiliated Hospital, Harbin Medical University, Harbin 150086, China
    Zhonghua Yan Ke Za Zhi 42:409-14. 2006
  4. ncbi The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
    L Crisponi
    Istituto di Ricerca sulle Talassemie ed Anemie Mediterranee CNR, and Dipartimento di Scienze Biomediche e Biotecnologie, Ospedale Regionale per le Microcitemie, Universita degli Studi di Cagliari, Cagliari, Italy
    Nat Genet 27:159-66. 2001
  5. pmc FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
    Elfride De Baere
    Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Am J Hum Genet 72:478-87. 2003
  6. pmc Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome
    Lina Basel-Vanagaite
    Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva 49100, Israel
    Am J Hum Genet 91:998-1010. 2012
  7. ncbi FOXL2 mutations and genomic rearrangements in BPES
    Diane Beysen
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Hum Mutat 30:158-69. 2009
  8. ncbi Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation
    E De Baere
    Department of Medical Genetics, Ghent University Hospital, B 9000 Ghent, Belgium
    Hum Mol Genet 10:1591-600. 2001
  9. ncbi Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients
    Nitin Udar
    Jules Stein Eye Institute, University of California, Los Angeles, California 90095, USA
    Hum Mutat 22:222-8. 2003
  10. ncbi 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
    Byung Chan Lim
    Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children s Hospital, Seoul, Korea
    J Child Neurol 26:615-8. 2011

Research Grants

Detail Information

Publications180 found, 100 shown here

  1. doi Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical manifestation and treatment
    Calliope E Allen
    Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA
    Int Ophthalmol Clin 48:15-23. 2008
  2. ncbi Skeletal manifestations in Ohdo syndrome: a case with bilateral patella dislocations
    Ruth Day
    Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children s Hospital, Eaton Road, Liverpool L12 2AP, UK
    Clin Dysmorphol 13:17-9. 2004
    ..A review of the skeletal manifestations reported in the literature on Ohdo syndrome reveals that joint laxity and skeletal deformities are important aspects of the phenotype...
  3. ncbi [Mutation analysis of FOXL2 in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome]
    Yan hua Qi
    Department of Ophthalmology, Second Affiliated Hospital, Harbin Medical University, Harbin 150086, China
    Zhonghua Yan Ke Za Zhi 42:409-14. 2006
    ..To identify the genetic mutation in two Chinese families and 6 sporadic patients with belpharophimosis-ptosis-epicanthus inversus syndrome (BPES)...
  4. ncbi The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
    L Crisponi
    Istituto di Ricerca sulle Talassemie ed Anemie Mediterranee CNR, and Dipartimento di Scienze Biomediche e Biotecnologie, Ospedale Regionale per le Microcitemie, Universita degli Studi di Cagliari, Cagliari, Italy
    Nat Genet 27:159-66. 2001
    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...
  5. pmc FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
    Elfride De Baere
    Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Am J Hum Genet 72:478-87. 2003
    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 ..
  6. pmc Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome
    Lina Basel-Vanagaite
    Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva 49100, Israel
    Am J Hum Genet 91:998-1010. 2012
    ..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 ..
  7. ncbi FOXL2 mutations and genomic rearrangements in BPES
    Diane Beysen
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Hum Mutat 30:158-69. 2009
    ..Mutations in FOXL2 are known to cause blepharophimosis syndrome (BPES), an autosomal dominant eyelid malformation associated (type I) or not (type II) with ovarian ..
  8. ncbi Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation
    E De Baere
    Department of Medical Genetics, Ghent University Hospital, B 9000 Ghent, Belgium
    Hum Mol Genet 10:1591-600. 2001
    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...
  9. ncbi Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients
    Nitin Udar
    Jules Stein Eye Institute, University of California, Los Angeles, California 90095, USA
    Hum Mutat 22:222-8. 2003
    ..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...
  10. ncbi 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
    Byung Chan Lim
    Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children s Hospital, Seoul, Korea
    J Child Neurol 26:615-8. 2011
    ..The clinical phenotype of this case included blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay...
  11. pmc Notch gain of function in mouse periocular mesenchyme downregulates FoxL2 and impairs eyelid levator muscle formation, leading to congenital blepharophimosis
    Yujin Zhang
    Edith J Crawley Vision Research Center Department of Ophthalmology, College of Medicine, University of Cincinnati, Cincinnati, OH 45267, USA
    J Cell Sci 124:2561-72. 2011
    ..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)) ..
  12. ncbi Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families
    J L Ramirez-Castro
    Unidad de Genética Médica, Facultad de Medicina, Universidad de Antioquia, Medellin, Colombia
    Am J Med Genet 113:47-51. 2002
    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...
  13. doi Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome?
    Gabriela F Leal
    Servico de Genetica Medica, Instituto Materno Infantil Prof Fernando Figueira, Recife PE, Brazil
    Am J Med Genet A 146:1059-62. 2008
  14. ncbi Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle
    H Dollfus
    LGME du CNRS, U 184 INSERM, Faculte de Medecine, Clinique Ophtalmologique and Département de Radiologie, Hopitaux Universitaires de Strasbourg, Strasbourg, France
    Clin Genet 63:117-20. 2003
    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...
  15. ncbi FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome
    Jeyabalan Nallathambi
    Department of Genetics, Dr G Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai 625 020, India
    J Genet 86:165-8. 2007
  16. ncbi The incidence of strabismus and refractive error in patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES)
    E L Dawson
    Moorfields Eye Hospital, City Road, London EC1V 2PD, England, U K
    Strabismus 11:173-7. 2003
    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...
  17. ncbi Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female
    M J Alao
    Service de Pediatrie, Hôpital de la Mère et de l Enfant Lagune, 01 BP 107, Cotonou, Benin
    Eur J Med Genet 55:630-4. 2012
    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...
  18. ncbi Mutational analysis of forkhead transcriptional factor 2 (FOXL2) in Korean patients with blepharophimosis-ptosis-epicanthus inversus syndrome
    S C Cha
    Department of Ophthalmology, College of Medicine, Yeungnam University, Daegu, Republic of Korea
    Clin Genet 64:485-90. 2003
    ..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 ..
  19. ncbi Mutations of the transcription factor FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome
    Dongmei Li
    Ophthalmology and Visual Sciences Key Lab, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, PR China
    Genet Test Mol Biomarkers 13:257-68. 2009
    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...
  20. pmc Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II
    Alireza Haghighi
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Mol Vis 18:211-8. 2012
    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)...
  21. pmc Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening
    Barbara D'haene
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    PLoS Genet 5:e1000522. 2009
    ..disease we studied the involvement of genetic changes of CNCs in the cis-regulatory domain of FOXL2 in blepharophimosis syndrome (BPES)...
  22. ncbi 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
    K Raile
    Hospital for Children and Adolescents and
    Eur J Endocrinol 153:353-8. 2005
    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)...
  23. ncbi 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
    Christian E Decock
    Department of Ophthalmology, Ghent University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
    Arch Ophthalmol 129:1564-9. 2011
    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.
  24. ncbi Mutation analysis of the FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome
    Shengjian Tang
    Plastic and Reconstructive Research Institute, Weifang Medical College, Weifang 261042, Shandong Province, Peoples Republic of China
    Mutagenesis 21:35-9. 2006
    b>Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant disorder characterized by blepharophimosis, ptosis and epicanthus inversus...
  25. pmc Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome
    D Beysen
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Am J Hum Genet 77:205-18. 2005
    ..In previous mutation studies of the role of FOXL2 in blepharophimosis syndrome (BPES), we identified intragenic mutations in 70% of our patients...
  26. ncbi Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome
    Siu fong June Or
    Clinical Genetic Service, Department of Health, Hong Kong SAR, China
    Chin Med J (Engl) 119:49-52. 2006
  27. ncbi Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients
    Inderjeet Kaur
    Hyderabad Eye Research Foundation, Hyderabad, India
    Br J Ophthalmol 95:881-6. 2011
    The fork-head transcription factor gene (FOXL2) gene has been implicated in Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) type I and type II...
  28. ncbi Microdeletion found by array-CGH in girl with blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25)
    Cristina Gonzalez-Gonzalez
    Department of Genetics, Megalab, Madrid, Spain
    Ophthalmic Genet 33:107-10. 2012
    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...
  29. ncbi 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
    Kenjiro Kosaki
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Ophthalmic Genet 23:43-7. 2002
    b>Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES) is an autosomal dominant disorder characterized by abnormalities of the eyelids...
  30. ncbi FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES)
    Jia Yan Fan
    Department of Ophthalmology, Shanghai Ninth People s Hospital, Shanghai Jiaotong University School of Medicine, China
    Transl Res 157:48-52. 2011
    b>Blepharophimosis syndrome (BPES) is a rare, autosomal dominant disease. Two clinical types of BPES have been distinguished...
  31. ncbi 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
    Alain Verloes
    Clinical Genetics Unit, APHP Robert DEBRE University Hospital, Paris, France
    Am J Med Genet A 140:1285-96. 2006
    We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype...
  32. ncbi Five patients with novel overlapping interstitial deletions in 8q22.2q22.3
    Alma Kuechler
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Am J Med Genet A 155:1857-64. 2011
    ..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 ..
  33. ncbi Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction
    Elfride De Baere
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Pediatr Endocrinol Rev 2:653-60. 2005
    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. ncbi Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p
    M Maw
    Biochemistry Department, University of Otago, Dunedin, New Zealand
    Hum Mol Genet 5:2049-54. 1996
    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...
  35. ncbi Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients
    Jeyabalan Nallathambi
    Department of Genetics, Dr G Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai 625020, India
    Hum Mutat 29:E123-31. 2008
    Mutations of the transcription factor FOXL2, involved in cranio-facial and ovarian development lead to the Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) in human...
  36. ncbi A newly recognized syndrome with double upper and lower lip, hypertelorism, eyelid ptosis, blepharophimosis, and third finger clinodactyly
    Ramesh C Parmar
    The Genetic Division, Department of Pediatrics, Seth G S Medical College and K E M Hospital, Parel, Mumbai, India
    Am J Med Genet A 124:200-1. 2004
    ..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...
  37. ncbi 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
    M H de Ru
    Department of Clinical Genetics and Human Genetics, V U University Medical Center, Amsterdam, The Netherlands
    Am J Med Genet A 137:81-7. 2005
    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...
  38. ncbi Blepharophimosis: a causally heterogeneous malformation frequently associated with developmental disabilities
    C Cunniff
    Department of Pediatrics, The University of Arizona College of Medicine, Steele Memorial Children s Research Center, Tucson 85724, USA
    Am J Med Genet 75:52-4. 1998
    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...
  39. ncbi The human FOXL2 mutation database
    Diane Beysen
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Hum Mutat 24:189-93. 2004
    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)...
  40. pmc FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome
    Juan Wang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Mol Vis 13:108-13. 2007
    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)...
  41. ncbi Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome
    Diane Beysen
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Hum Mutat 29:E205-19. 2008
    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...
  42. ncbi Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES
    E De Baere
    Department of Medical Genetics, Ghent University Hospital, Ghent, B 9000, Belgium
    Genomics 68:296-304. 2000
    The blepharophimosis syndrome (BPES) is a rare genetic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus...
  43. pmc A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis
    Mitchel J Pariani
    Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Blvd, Los Angeles, CA 90048, USA
    Eur J Med Genet 52:123-7. 2009
    ..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...
  44. ncbi Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C)
    Arun Kumar
    Department of Molecular Reproduction, Development, and Genetics, Indian Institute of Science, Bangalore, India
    Mol Vis 10:445-9. 2004
    b>Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare eye genetic disorder caused by mutations in the FOXL2 gene located at chromosome 3q23...
  45. ncbi FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions
    B D'haene
    Center for Medical Genetics, Ghent University Hospital, Belgium
    Hum Mutat 31:E1332-47. 2010
    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...
  46. ncbi A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction
    Jeyabalan Nallathambi
    Department of Genetics, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai, India
    Hum Genet 121:107-12. 2007
    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)...
  47. ncbi Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation
    Diane Beysen
    Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium
    Hum Mol Genet 17:2030-8. 2008
    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...
  48. ncbi One-stage correction for blepharophimosis syndrome
    S Y Wu
    Department of Ophthalmology, Chang Gung University College of Medicine, Chang Gung Memorial Hospital, Kewi Shan, Taoyuan, Taiwan, Republic of China
    Eye (Lond) 22:380-8. 2008
    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.
  49. ncbi FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients
    Siv Fokstuen
    Division of Medical Genetics, University of Geneva Medical School and University Hospitals, Geneva, Switzerland
    Am J Med Genet A 117:143-6. 2003
    Mutations in the forkhead transcription factor gene 2 (FOXL2) were recently reported to cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) types I and II...
  50. ncbi Correction of the lower eyelid malpositioning in the blepharophimosis-ptosis-epicanthus inversus syndrome
    Christian E Decock
    Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium
    Ophthal Plast Reconstr Surg 27:368-70. 2011
    b>Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant complex eyelid malformation. The authors aim to offer an explanation for the lower eyelid malformation and propose a novel surgical approach to correct it...
  51. ncbi Surgical strategy for congenital blepharophimosis syndrome
    Wei Qing Huang
    Department of Plastic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100032, China
    Chin Med J (Engl) 120:1413-5. 2007
    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.
  52. ncbi Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2
    R Bell
    The Medical Genetics Unit, St George s Hospital Medical School, Tooting, London SW17 ORE, UK
    Genet Test 5:335-8. 2001
    b>Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES) is an autosomal dominant disorder that is characterized by distinctive eyelid abnormalities...
  53. ncbi Etiology of ovarian failure in blepharophimosis ptosis epicanthus inversus syndrome: FOXL2 is a conserved, early-acting gene in vertebrate ovarian development
    Kelly A Loffler
    Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia
    Endocrinology 144:3237-43. 2003
    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...
  54. ncbi Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation
    A L Vincent
    Eye Department, Auckland City Hospital, New Zealand
    Clin Genet 68:520-3. 2005
    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...
  55. ncbi Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction: a new syndrome complex?
    Vasumathy Vedantham
    Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai, Tamil Nadu, India
    Indian J Ophthalmol 55:150-1. 2007
    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...
  56. pmc Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction
    Pramod Kumar Pandey
    Indian J Ophthalmol 56:343; author reply 343-4. 2008
  57. doi Deletion 3q22.1-q23 with blepharophimosis, ptosis and epicanthus inversus and an Albright hereditary osteodystrophy-like brachydactyly phenotype
    Marion S Croft
    Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK
    Clin Dysmorphol 17:189-91. 2008
  58. ncbi Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation--a family study
    F Laccone
    Department of Medical Genetics, Medical University of Vienna, Vienna, Austria
    Clin Genet 74:279-83. 2008
    ..report a family in which two siblings presented with an apparent dysmorphic syndrome, including hypotelorism, blepharophimosis, slight ptosis, epicanthal folds, microstomia and dysmorphic ears. One sibling had a cleft palate...
  59. ncbi Foxl2 function in ovarian development
    Nina Henriette Uhlenhaut
    Developmental Biology Unit, European Molecular Biology Laboratory, Meyerhofstrasse 1, 69117 Heidelberg, Germany
    Mol Genet Metab 88:225-34. 2006
    ..Human patients carrying mutations in the FOXL2 gene display blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), an autosomal dominant disease associated with eyelid defects and ..
  60. ncbi Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23)
    Andreas Tzschach
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Ophthalmic Genet 29:37-40. 2008
    We report on a young female patient with the clinical features of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES, OMIM 110100) and a balanced chromosome translocation 46, XX, t(2;3)(q33;q23)dn...
  61. ncbi The mutations and potential targets of the forkhead transcription factor FOXL2
    L Moumné
    Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, Paris, France
    Mol Cell Endocrinol 282:2-11. 2008
    Mutations of FOXL2, a gene encoding a forkhead transcription factor, have been shown to cause the blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)...
  62. ncbi Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case
    Francesca Mari
    Medical Genetics, Molecular Biology Department, University of Siena, Siena, Italy
    J AAPOS 10:279-80. 2006
    b>Blepharophimosis-ptosis-epicanthus inversus syndrome (OMIM #U10100) is a rare autosomal-dominant disorder in which an eyelid malformation is associated (type I) or not (type H) with premature ovarian failure in the affected female...
  63. ncbi Atypical blepharophimosis syndrome
    Thabit Mustafa
    Ophthalmology 114:1027. 2007
  64. pmc Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling
    Mark O'Driscoll
    Genome Damage and Stability Centre, University of Sussex, Brighton, UK
    Am J Hum Genet 81:77-86. 2007
    ..function in cell lines from three haploinsufficient contiguous gene-deletion disorders--a subset of blepharophimosis-ptosis-epicanthus inversus syndrome, Miller-Dieker lissencephaly syndrome, and Williams-Beuren syndrome--in ..
  65. ncbi Congenital malformations of the eye and orbit
    Jason R Guercio
    University of Pennsylvania School of Medicine, 3450 Hamilton Walk, Philadelphia, PA 19104, USA
    Otolaryngol Clin North Am 40:113-40, vii. 2007
    ....
  66. ncbi Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient
    Daniel Rocha de Carvalho
    Departamento de Genetica, Instituto de Biociencias, Universidade Estadual Paulista UNESP, Botucatu, SP, Brazil
    Am J Med Genet A 146:2134-7. 2008
    We report on a 4-year-old girl with blepharophimosis, a typical facial gestalt and skeletal abnormalities seen in the blepharofacioskeletal syndrome (BFSS)...
  67. ncbi Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)
    Alvaro Leon-Mateos
    Department of Dermatology, POVISA, Vigo, Spain
    Int J Dermatol 46:61-3. 2007
    b>Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare inherited condition that includes characteristic eyelid malformations and sometimes reduced fertility in females...
  68. ncbi Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndrome
    T Yamada
    Department of Ophthalmology, Toyama Medical and Pharmaceutical University, Japan
    J Hum Genet 46:733-6. 2001
    ..in the forkhead transcription factor gene, FOXL2, in three members a Japanese family with autosomal dominant blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and in 100 healthy controls...
  69. ncbi Blepharophimosis-ptosis-epicanthus inversus syndrome: objective analysis of surgical outcome in patients from a single unit
    Alexandra Taylor
    Ophthalmology Department, and Research and Development Support Unit, Salisbury District Hospital, Salisbury, Wiltshire, UK
    Clin Experiment Ophthalmol 35:262-9. 2007
    The aim was to objectively assess surgical outcome in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
  70. ncbi Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature
    Arif O Khan
    Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    Ophthalmic Genet 27:79-82. 2006
    Interstitial deletion of Hsa 3q involves FOXL2, the gene responsible for blepharophimosis-ptosis-telecanthus-epicanthus inversus (BPES)...
  71. ncbi The factors influencing visual development in blepharophimosis-ptosis-epicanthus inversus syndrome
    Ki Hwan Choi
    Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
    J Pediatr Ophthalmol Strabismus 43:285-8. 2006
    To investigate the factors influencing visual development in blepharophimosis-ptosis-epicanthus inversus syndrome.
  72. ncbi Tamoxifen treatment in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome and peripheral precocious puberty
    Cristina González-Niño
    Pediatric Endocrinology Department, Vall d Hebron Hospital, Barcelona, Spain
    J Pediatr Endocrinol Metab 20:445-8. 2007
    Patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) can be classified as types 1 or 2, according to the presence or not of ovarian failure...
  73. ncbi [A case of severe mental retardation with blepharophimosis, ptosis, microphthalmia, microcephalus, hypogonadism and short stature--the difference from Ohdo blepharophimosis syndrome]
    Tsunenori Hirayama
    Department of Pediatrics, National Hospital Organization Fukushima Hospital, Sukagawa, Fukushima
    No To Hattatsu 36:253-7. 2004
    We report a case of 13-year-old girl with short stature, microcephalus, blepharophimosis, ptosis, bilateral microphthalmia (more prominent in the right), hypogonadism, other minor anomalies, and severe mental retardation...
  74. ncbi Blepharocheilodontic (BCD) syndrome: expanding the phenotype?
    Vera Lucia Gil da Silva Lopes
    Departamento de Genética Médica, Faculdade de Ciencias Medicas, Universidade Estadual de Campinas, Campinas, Sao Paulo, Brazil
    Am J Med Genet A 121:266-70. 2003
    ..The broadened phenotype and the possibility of involvement of p63 and IRF6 genes in this condition are discussed...
  75. ncbi Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development
    Manuela Uda
    Laboratory of Genetics, National Institute on Aging, Baltimore, MD 21224, USA
    Hum Mol Genet 13:1171-81. 2004
    ..or premature ovarian failure (POF) in women, as well as eyelid/forehead dysmorphology in both sexes (the 'blepharophimosis-ptosis-epicanthus inversus syndrome', BPES)...
  76. pmc Further evidence for the location of the BPES gene at 3q2
    C E de Die-Smulders
    J Med Genet 28:725. 1991
  77. ncbi Comparison of cosmetic results in frontalis sling operations: the eyelid crease incision versus the supralash stab incision
    Ayse Yagci
    Department of Ophthalmology, Ege University, School of Medicine, Izmir, Turkey
    J Pediatr Ophthalmol Strabismus 40:213-6. 2003
    ..In this study, we aimed to evaluate the effect of the incision site on ptosis correction and eyelid crease formation in frontalis sling operations...
  78. ncbi Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition
    S M White
    Genetic Health Services Victoria, Royal Children s Hospital, Melbourne, Parkville 3052, Victoria, Australia
    Clin Dysmorphol 12:109-13. 2003
    Ohdo syndrome (MIM 249620) is a multiple malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability...
  79. ncbi Further delineation of the chromosome 14q terminal deletion syndrome
    Clara D M van Karnebeek
    Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Am J Med Genet 110:65-72. 2002
    A patient with hypotonia, blepharophimosis, ptosis, a bulbous nose, a long philtrum, upturned corners of the mouth, and mild developmental delay was found to have a small subtelomeric deletion of the long arm of chromosome 14 (q32...
  80. ncbi Blepharophimosis: a recommendation for early surgery in patients with severe ptosis
    Peter S Beckingsale
    Eyelid, Lacrimal and Orbital Clinic, Royal Children s Hospital, Brisbane, Queensland, Australia
    Clin Experiment Ophthalmol 31:138-42. 2003
    To determine the optimal age for surgical correction of blepharophimosis. Associated features and their effects on incidence of amblyopia were also investigated.
  81. pmc Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22
    H Dollfus
    J Med Genet 38:470-2. 2001
  82. ncbi Facial characteristics are not distinctive features for the acrofacial dysostosis syndrome type Kennedy-Teebi
    Mariken Ruiter
    Am J Med Genet A 135:344; author reply 345. 2005
  83. ncbi De novo mosaic 46,XX,del(3)(q21q25)/46,XX karyotype in a patient with BPES
    J J M Engelen
    Genet Couns 13:359-61. 2002
  84. ncbi Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?
    Luigi Titomanlio
    Clinical Genetics Unit, Robert Debre Hospital, Paris, France
    Am J Med Genet A 137:332-5. 2005
    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...
  85. ncbi [Anesthetic management of an infant with Freeman-Sheldon syndrome]
    Megumi Okawa
    Department of Anesthesiology, Osaka Medical Center, Research Institute for Maternal and Child Health, Izumi 594 1101
    Masui 51:659-62. 2002
    ..He had features of the syndrome including blepharophimosis, hypertelorism, a flat nose, microstomia with a limited opening, micrognathia, a very short webbed neck, ..
  86. ncbi Cutaneous peculiarities in blepharophimosis-ptosis-epicanthus inversus syndrome: report of a case
    M Mohrenschlager
    Department of Dermatology and Allergy Biederstein, Technical University of Munich, Germany
    J AAPOS 5:58-9. 2001
    b>Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare inherited disorder with characteristic oculofacial affection of the eyelid region...
  87. ncbi Mechanisms of premature ovarian failure
    N Santoro
    Division of Reproductive Endocrinology, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, New York 10461, USA
    Ann Endocrinol (Paris) 64:87-92. 2003
    ..The localization of the gene for the blepharophimosis/ptosis/POF Syndrome has been recently reported, yet this finding has not been seen commonly in POF...
  88. ncbi [Congenital ptosis: amblyogenic refractive errors, amblyopia, manifest strabismus and stereopsis related to the types of ptosis. Data on 77 patients and review of the literature]
    Gabriele Charlotte Gusek-Schneider
    Augenklinik mit Poliklinik der Universität Erlangen Nürnberg, Erlangen
    Klin Monbl Augenheilkd 219:340-8. 2002
    ..Former reports on amblyogenic refractive errors, amblyopia and binocular vision in congenital ptosis usually comprise all forms of ptosis without any differentiation. This study is an analysis of different kinds of ptosis...
  89. pmc MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes
    Asli Sirmaci
    Dr John T Macdonald Foundation Department of Human Genetics, John P Hussman Institute for Human Genomics, University of Miami, FL 33136, USA
    Am J Hum Genet 87:679-86. 2010
    Distinctive facial features consisting of hypertelorism, telecanthus, blepharophimosis, blepharoptosis, epicanthus inversus, periumbilical defects, and skeletal anomalies are seen in autosomal-recessive Carnevale, Malpuech, Michels, and ..
  90. ncbi Midline developmental anomalies in Down syndrome
    Matthias Kieslich
    Department of Pediatric Neurology, Johann Wolfgang Goethe University, Frankfurt Main, Germany
    J Child Neurol 17:460-2. 2002
    ..spontaneously in the 37th postconceptional week with multiple malformations: microcephaly, hypertelorism, blepharophimosis, medial cleft palate, micrognathia, omphalocele, and pathologic palmar and plantar creases...
  91. ncbi High incidence of malformation syndromes in a series of 1,073 children with cancer
    Johannes Hans M Merks
    Department of Pediatric Oncology, Emma Children s Hospital, Academic Medical Center, Amsterdam, The Netherlands
    Am J Med Genet A 134:132-43. 2005
    ..neuroblastoma), LEOPARD syndrome (neuroblastoma), Poland anomaly (osteosarcoma; Hodgkin disease), and blepharophimosis epicanthus inversus syndrome (Burkitt lymphoma)...
  92. ncbi Anophthalmia-plus syndrome: a clinical report and review of the literature
    Imad R Makhoul
    Department of Neonatology, Meyer Children s Hospital, Rambam Health Care Campus, and the Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
    Am J Med Genet A 143:64-8. 2007
    ..bilateral cleft palate and lip, mild microphthalmia with iris coloboma and glaucoma of the right eye, and blepharophimosis with severe microphthalmia of the left eye...
  93. ncbi Genetic disorders in premature ovarian failure
    T Laml
    University of Vienna Medical School, Department of Obstetrics and Gynaecology, Austria
    Hum Reprod Update 8:483-91. 2002
    ..uridyltransferase (GALT) gene, the FSH receptor (FSHR) gene, chromosome 3q containing the Blepharophimosis gene and the autoimmune regulator (AIRE) gene, responsible for polyendocrinopathy-candidiasis-ectodermal ..
  94. ncbi SED-brachydactyly and distinctive speech: report of two new cases
    D Garcia-Cruz
    Instituto de Genetica Humana Dr Enrique Corona Rivera, Departamento de Biología Molecular y Genómica, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico
    Genet Couns 18:85-97. 2007
    ..or Tattoo dysplasia) clinically characterized by short stature with acral shortness, distinctive face, mild blepharophimosis, upslanted palpebral fissures, abundant eyebrows and eyelashes, thick and abundant hair and coarse voice; and ..
  95. ncbi Genes governing premature ovarian failure
    Hridesh Dixit
    Centre for Cellular and Molecular Biology, Uppal Road, Hyderabad, India
    Reprod Biomed Online 20:724-40. 2010
    ..Recently, association between blepharophimosis-ptosis-epicanthus inversus syndrome type 1 and POF has emerged as a possibility...
  96. ncbi Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome?
    K Ounap
    Medical Genetics Center, Tartu University Children s Hospital, Estonia
    Clin Dysmorphol 7:45-50. 1998
    ..Dysmorphic facial features included high forehead, sparse hair, blepharophimosis, telecanthus, epicanthic folds, a low nasal bridge, a broad nasal tip and micrognathia...
  97. ncbi Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion
    V R Sutton
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet 93:381-7. 2000
    ..3) and del(14)(q32); blepharophimosis: del(14)(q32); small thorax: del(14)(q11.2q13); and joint contractures: del(14)(q11.2q13) and del(14)(q31)...
  98. ncbi Evaluation of transconjunctival frontalis suspension using nonabsorbable suture
    Tamer I Gawdat
    Ophthalmology Department, Kasr Al Aini Hospital, Cairo University, Cairo, Egypt
    Eur J Ophthalmol 20:265-70. 2010
    ..To evaluate the transconjunctival frontalis suspension technique using nonabsorbable suture (4/0 polypropylene) in patients with severe blepharoptosis and poor levator function...
  99. ncbi Female sex preponderance for idiopathic familial premature ovarian failure suggests an X chromosome defect: opinion
    C J Davis
    Department of Obstetrics and Gynaecology, Department of Endocrinology, University College Hospital London, The Cobbold Laboratories, Middlesex Hospital, London W1N 8AA, UK
    Hum Reprod 15:2418-22. 2000
    ..In contrast, other known causes of POF, such as blepharophimosis ptosis epicanthus and inversus and autosomal recessive gonadal dysgenesis, had no altered sex ratio...
  100. ncbi Fronto-facio-nasal dysplasia
    G Suthers
    SA Clinical Genetics Service, Women s and Children s Hospital, North Adelaide, Australia
    Clin Dysmorphol 6:245-9. 1997
    ..facial clefts which involve the nose and palpebral fissures resulting in defects of the alae nasi and blepharophimosis, lagophthalmos, and S-shaped palpebral fissures...
  101. ncbi Mental retardation, obesity, mandibular prognathism with eye and skin anomalies (MOMES syndrome): a newly recognized autosomal recessive syndrome
    P N Kantaputra
    Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand
    Am J Med Genet 103:283-8. 2001
    ..Ocular anomalies consisted of blepharophimosis, blepharoptosis, decreased visual acuity, abducens palsy, hyperopic astigmatism, and accommodative esotropia...

Research Grants5

  1. CLONING THE GENE FOR BLEPHAROPHIMOSIS SYNDROME
    Suraj Bhat; Fiscal Year: 2003
    b>Blepharophimosis syndrome (BPES), is a congenital eyelid malformation which consists of the clinical triad of ptosis, telecanthus, and lid phimosis. BPES can occur sporadically or in an autosomal dominant fashion...
  2. Mouse model for eyelid disease: Congenital blepharophimosis
    Chia Yang Liu; Fiscal Year: 2013
    ..There are two types of BPES: Type I consists of the four major features of blepharophimosis, ptosis, epicanthus inversus, and telecanthus plus premature ovarian failure (POF), leading to infertility in ..
  3. Clinical Phenotype of Imprinted Genes of Chromosome 14
    Vernon Sutton; Fiscal Year: 2005
    ..Features that have been reported in association with paternal UPD 14 include: Blepharophimosis and other dysmorphic facial features, mental retardation/developmental delay, laryngomalacia, small thorax, ..
  4. Reproductive Hormonal Effects of Weight Loss in Women
    Nanette Santoro; Fiscal Year: 2005
    ..Thus, this initial exploration, if positive, would provide the basis for a new line of investigation for the PI into the interactions between reproduction and metabolism. ..
  5. Molecular Mechanisms of FOXL2, An Ovarian Failure Gene
    Margareta Pisarska; Fiscal Year: 2010
    ..The proposed study could provide a better understanding of the mechanisms underlying premature ovarian failure. ..