Genomes and Genes
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)
Publications180 found, 100 shown here
- Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical manifestation and treatmentCalliope E Allen
Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA
Int Ophthalmol Clin 48:15-23. 2008
- Skeletal manifestations in Ohdo syndrome: a case with bilateral patella dislocationsRuth 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...
- [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)...
- The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndromeL 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. 2001In 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...
- FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlationElfride De Baere
Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium
Am J Hum Genet 72:478-87. 2003b>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 ..
- Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndromeLina 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 ..
- FOXL2 mutations and genomic rearrangements in BPESDiane 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 ..
- Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlationE De Baere
Department of Medical Genetics, Ghent University Hospital, B 9000 Ghent, Belgium
Hum Mol Genet 10:1591-600. 2001Mutations 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...
- Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patientsNitin 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...
- 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 delayByung 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...
- Notch gain of function in mouse periocular mesenchyme downregulates FoxL2 and impairs eyelid levator muscle formation, leading to congenital blepharophimosisYujin 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)) ..
- Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian familiesJ L Ramirez-Castro
Unidad de Genética Médica, Facultad de Medicina, Universidad de Antioquia, Medellin, Colombia
Am J Med Genet 113:47-51. 2002We 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...
- 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
- Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscleH 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. 2003The 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...
- FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndromeJeyabalan 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
- 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. 2003A 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...
- Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African femaleM 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. 2012b>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...
- Mutational analysis of forkhead transcriptional factor 2 (FOXL2) in Korean patients with blepharophimosis-ptosis-epicanthus inversus syndromeS 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 ..
- Mutations of the transcription factor FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndromeDongmei 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. 2009b>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...
- Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type IIAlireza Haghighi
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
Mol Vis 18:211-8. 2012b>Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a developmental disease characterized by a complex eyelid malformation associated or not with premature ovarian failure (POF)...
- Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screeningBarbara 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)...
- 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 syndromeK Raile
Hospital for Children and Adolescents and
Eur J Endocrinol 153:353-8. 2005b>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)...
- 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 examinationChristian E Decock
Department of Ophthalmology, Ghent University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
Arch Ophthalmol 129:1564-9. 2011To 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.
- Mutation analysis of the FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndromeShengjian Tang
Plastic and Reconstructive Research Institute, Weifang Medical College, Weifang 261042, Shandong Province, Peoples Republic of China
Mutagenesis 21:35-9. 2006b>Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant disorder characterized by blepharophimosis, ptosis and epicanthus inversus...
- Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndromeD 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...
- Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndromeSiu fong June Or
Clinical Genetic Service, Department of Health, Hong Kong SAR, China
Chin Med J (Engl) 119:49-52. 2006
- Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patientsInderjeet Kaur
Hyderabad Eye Research Foundation, Hyderabad, India
Br J Ophthalmol 95:881-6. 2011The fork-head transcription factor gene (FOXL2) gene has been implicated in Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) type I and type II...
- 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. 2012b>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...
- 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 eyelidKenjiro Kosaki
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
Ophthalmic Genet 23:43-7. 2002b>Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES) is an autosomal dominant disorder characterized by abnormalities of the eyelids...
- 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. 2011b>Blepharophimosis syndrome (BPES) is a rare, autosomal dominant disease. Two clinical types of BPES have been distinguished...
- 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 recessiveAlain Verloes
Clinical Genetics Unit, APHP Robert DEBRE University Hospital, Paris, France
Am J Med Genet A 140:1285-96. 2006We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype...
- Five patients with novel overlapping interstitial deletions in 8q22.2q22.3Alma 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 ..
- Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunctionElfride De Baere
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
Pediatr Endocrinol Rev 2:653-60. 2005Recently the molecular basis of the blepharophimosis-ptosis-epicanthus inversus-syndrome (BPES), an autosomal dominant developmental disorder of the eyelids and ovary, was elucidated...
- Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7pM Maw
Biochemistry Department, University of Otago, Dunedin, New Zealand
Hum Mol Genet 5:2049-54. 1996b>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...
- Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patientsJeyabalan 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. 2008Mutations of the transcription factor FOXL2, involved in cranio-facial and ovarian development lead to the Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) in human...
- A newly recognized syndrome with double upper and lower lip, hypertelorism, eyelid ptosis, blepharophimosis, and third finger clinodactylyRamesh 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...
- 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 literatureM 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. 2005We 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...
- Blepharophimosis: a causally heterogeneous malformation frequently associated with developmental disabilitiesC 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. 1998We report on 22 individuals referred for genetic evaluation because of blepharophimosis. Fourteen of these patients had the blepharophimosis syndrome: 5 familial and 9 sporadic...
- The human FOXL2 mutation databaseDiane Beysen
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
Hum Mutat 24:189-93. 2004b>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)...
- FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndromeJuan Wang
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
Mol Vis 13:108-13. 2007b>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)...
- Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndromeDiane Beysen
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
Hum Mutat 29:E205-19. 2008b>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...
- Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPESE De Baere
Department of Medical Genetics, Ghent University Hospital, Ghent, B 9000, Belgium
Genomics 68:296-304. 2000The blepharophimosis syndrome (BPES) is a rare genetic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus...
- A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosisMitchel 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...
- 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. 2004b>Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare eye genetic disorder caused by mutations in the FOXL2 gene located at chromosome 3q23...
- FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletionsB D'haene
Center for Medical Genetics, Ghent University Hospital, Belgium
Hum Mutat 31:E1332-47. 2010b>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...
- A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunctionJeyabalan Nallathambi
Department of Genetics, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai, India
Hum Genet 121:107-12. 2007The 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)...
- Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivationDiane Beysen
Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium
Hum Mol Genet 17:2030-8. 2008Mutations of the FOXL2 gene have been shown to cause blepharophimosis syndrome (BPES), characterized by an eyelid malformation associated with premature ovarian failure or not...
- One-stage correction for blepharophimosis syndromeS 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. 2008To 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.
- FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patientsSiv Fokstuen
Division of Medical Genetics, University of Geneva Medical School and University Hospitals, Geneva, Switzerland
Am J Med Genet A 117:143-6. 2003Mutations in the forkhead transcription factor gene 2 (FOXL2) were recently reported to cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) types I and II...
- Correction of the lower eyelid malpositioning in the blepharophimosis-ptosis-epicanthus inversus syndromeChristian E Decock
Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium
Ophthal Plast Reconstr Surg 27:368-70. 2011b>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...
- Surgical strategy for congenital blepharophimosis syndromeWei 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. 2007So 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.
- Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2R Bell
The Medical Genetics Unit, St George s Hospital Medical School, Tooting, London SW17 ORE, UK
Genet Test 5:335-8. 2001b>Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES) is an autosomal dominant disorder that is characterized by distinctive eyelid abnormalities...
- Etiology of ovarian failure in blepharophimosis ptosis epicanthus inversus syndrome: FOXL2 is a conserved, early-acting gene in vertebrate ovarian developmentKelly A Loffler
Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia
Endocrinology 144:3237-43. 2003b>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...
- Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutationA L Vincent
Eye Department, Auckland City Hospital, New Zealand
Clin Genet 68:520-3. 2005This 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...
- 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. 2007A 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...
- Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overactionPramod Kumar Pandey
Indian J Ophthalmol 56:343; author reply 343-4. 2008
- Deletion 3q22.1-q23 with blepharophimosis, ptosis and epicanthus inversus and an Albright hereditary osteodystrophy-like brachydactyly phenotypeMarion S Croft
Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK
Clin Dysmorphol 17:189-91. 2008
- Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation--a family studyF 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...
- Foxl2 function in ovarian developmentNina 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 ..
- 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. 2008We 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...
- The mutations and potential targets of the forkhead transcription factor FOXL2L Moumné
Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, Paris, France
Mol Cell Endocrinol 282:2-11. 2008Mutations of FOXL2, a gene encoding a forkhead transcription factor, have been shown to cause the blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)...
- Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a caseFrancesca Mari
Medical Genetics, Molecular Biology Department, University of Siena, Siena, Italy
J AAPOS 10:279-80. 2006b>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...
- Atypical blepharophimosis syndromeThabit Mustafa
Ophthalmology 114:1027. 2007
- Cellular and clinical impact of haploinsufficiency for genes involved in ATR signalingMark 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 ..
- Congenital malformations of the eye and orbitJason R Guercio
University of Pennsylvania School of Medicine, 3450 Hamilton Walk, Philadelphia, PA 19104, USA
Otolaryngol Clin North Am 40:113-40, vii. 2007....
- Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patientDaniel Rocha de Carvalho
Departamento de Genetica, Instituto de Biociencias, Universidade Estadual Paulista UNESP, Botucatu, SP, Brazil
Am J Med Genet A 146:2134-7. 2008We report on a 4-year-old girl with blepharophimosis, a typical facial gestalt and skeletal abnormalities seen in the blepharofacioskeletal syndrome (BFSS)...
- Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)Alvaro Leon-Mateos
Department of Dermatology, POVISA, Vigo, Spain
Int J Dermatol 46:61-3. 2007b>Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare inherited condition that includes characteristic eyelid malformations and sometimes reduced fertility in females...
- Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndromeT 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...
- Blepharophimosis-ptosis-epicanthus inversus syndrome: objective analysis of surgical outcome in patients from a single unitAlexandra Taylor
Ophthalmology Department, and Research and Development Support Unit, Salisbury District Hospital, Salisbury, Wiltshire, UK
Clin Experiment Ophthalmol 35:262-9. 2007The aim was to objectively assess surgical outcome in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
- Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short statureArif O Khan
Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
Ophthalmic Genet 27:79-82. 2006Interstitial deletion of Hsa 3q involves FOXL2, the gene responsible for blepharophimosis-ptosis-telecanthus-epicanthus inversus (BPES)...
- The factors influencing visual development in blepharophimosis-ptosis-epicanthus inversus syndromeKi Hwan Choi
Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
J Pediatr Ophthalmol Strabismus 43:285-8. 2006To investigate the factors influencing visual development in blepharophimosis-ptosis-epicanthus inversus syndrome.
- Tamoxifen treatment in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome and peripheral precocious pubertyCristina González-Niño
Pediatric Endocrinology Department, Vall d Hebron Hospital, Barcelona, Spain
J Pediatr Endocrinol Metab 20:445-8. 2007Patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) can be classified as types 1 or 2, according to the presence or not of ovarian failure...
- [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. 2004We 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...
- 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...
- Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle developmentManuela 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)...
- Further evidence for the location of the BPES gene at 3q2C E de Die-Smulders
J Med Genet 28:725. 1991
- Comparison of cosmetic results in frontalis sling operations: the eyelid crease incision versus the supralash stab incisionAyse 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...
- Two further cases of Ohdo syndrome delineate the phenotypic variability of the conditionS M White
Genetic Health Services Victoria, Royal Children s Hospital, Melbourne, Parkville 3052, Victoria, Australia
Clin Dysmorphol 12:109-13. 2003Ohdo syndrome (MIM 249620) is a multiple malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability...
- Further delineation of the chromosome 14q terminal deletion syndromeClara D M van Karnebeek
Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Am J Med Genet 110:65-72. 2002A 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...
- Blepharophimosis: a recommendation for early surgery in patients with severe ptosisPeter S Beckingsale
Eyelid, Lacrimal and Orbital Clinic, Royal Children s Hospital, Brisbane, Queensland, Australia
Clin Experiment Ophthalmol 31:138-42. 2003To determine the optimal age for surgical correction of blepharophimosis. Associated features and their effects on incidence of amblyopia were also investigated.
- Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22H Dollfus
J Med Genet 38:470-2. 2001
- Facial characteristics are not distinctive features for the acrofacial dysostosis syndrome type Kennedy-TeebiMariken Ruiter
Am J Med Genet A 135:344; author reply 345. 2005
- De novo mosaic 46,XX,del(3)(q21q25)/46,XX karyotype in a patient with BPESJ J M Engelen
Genet Couns 13:359-61. 2002
- 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. 2005We 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...
- [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, ..
- Cutaneous peculiarities in blepharophimosis-ptosis-epicanthus inversus syndrome: report of a caseM Mohrenschlager
Department of Dermatology and Allergy Biederstein, Technical University of Munich, Germany
J AAPOS 5:58-9. 2001b>Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare inherited disorder with characteristic oculofacial affection of the eyelid region...
- Mechanisms of premature ovarian failureN 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...
- [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...
- MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromesAsli 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. 2010Distinctive facial features consisting of hypertelorism, telecanthus, blepharophimosis, blepharoptosis, epicanthus inversus, periumbilical defects, and skeletal anomalies are seen in autosomal-recessive Carnevale, Malpuech, Michels, and ..
- Midline developmental anomalies in Down syndromeMatthias 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...
- High incidence of malformation syndromes in a series of 1,073 children with cancerJohannes 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)...
- Anophthalmia-plus syndrome: a clinical report and review of the literatureImad 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...
- Genetic disorders in premature ovarian failureT 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 ..
- SED-brachydactyly and distinctive speech: report of two new casesD 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 ..
- Genes governing premature ovarian failureHridesh 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...
- 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...
- Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletionV 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)...
- Evaluation of transconjunctival frontalis suspension using nonabsorbable sutureTamer 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...
- Female sex preponderance for idiopathic familial premature ovarian failure suggests an X chromosome defect: opinionC 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...
- Fronto-facio-nasal dysplasiaG 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...
- Mental retardation, obesity, mandibular prognathism with eye and skin anomalies (MOMES syndrome): a newly recognized autosomal recessive syndromeP 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...
- CLONING THE GENE FOR BLEPHAROPHIMOSIS SYNDROMESuraj Bhat; Fiscal Year: 2003b>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...
- Mouse model for eyelid disease: Congenital blepharophimosisChia 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 ..
- Clinical Phenotype of Imprinted Genes of Chromosome 14Vernon 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, ..
- Reproductive Hormonal Effects of Weight Loss in WomenNanette 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. ..
- Molecular Mechanisms of FOXL2, An Ovarian Failure GeneMargareta Pisarska; Fiscal Year: 2010..The proposed study could provide a better understanding of the mechanisms underlying premature ovarian failure. ..