Blepharophimosis: 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)Blepharoptosis: Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle.Eyelids: Each of the upper and lower folds of SKIN which cover the EYE when closed.Skin Abnormalities: Congenital structural abnormalities of the skin.Microstomia: A congenital defect in which the mouth is unusually small. (Dorland, 27th ed)Syndrome: A characteristic symptom complex.Abnormalities, MultipleChromosomes, Human, Pair 3: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)Forkhead Transcription Factors: A subclass of winged helix DNA-binding proteins that share homology with their founding member fork head protein, Drosophila.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Encyclopedias as Topic: Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)Mental Retardation, X-Linked: A class of genetic disorders resulting in INTELLECTUAL DISABILITY that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS).Bence Jones Protein: An abnormal protein with unusual thermosolubility characteristics that is found in the urine of patients with MULTIPLE MYELOMA.Diagnosis-Related Groups: A system for classifying patient care by relating common characteristics such as diagnosis, treatment, and age to an expected consumption of hospital resources and length of stay. Its purpose is to provide a framework for specifying case mix and to reduce hospital costs and reimbursements and it forms the cornerstone of the prospective payment system.Eyelid DiseasesInternational Classification of Diseases: A system of categories to which morbid entries are assigned according to established criteria. Included is the entire range of conditions in a manageable number of categories, grouped to facilitate mortality reporting. It is produced by the World Health Organization (From ICD-10, p1). The Clinical Modifications, produced by the UNITED STATES DEPT. OF HEALTH AND HUMAN SERVICES, are larger extensions used for morbidity and general epidemiological purposes, primarily in the U.S.China: A country spanning from central Asia to the Pacific Ocean.Expert Systems: Computer programs based on knowledge developed from consultation with experts on a problem, and the processing and/or formalizing of this knowledge using these programs in such a manner that the problems may be solved.Delphi Technique: An iterative questionnaire designed to measure consensus among individual responses. In the classic Delphi approach, there is no interaction between responder and interviewer.Consensus: General agreement or collective opinion; the judgment arrived at by most of those concerned.Reproducibility of Results: The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.Periodicals as Topic: A publication issued at stated, more or less regular, intervals.Post and Core Technique: Use of a metal casting, usually with a post in the pulp or root canal, designed to support and retain an artificial crown.Authorship: The profession of writing. Also the identity of the writer as the creator of a literary production.Bibliometrics: The use of statistical methods in the analysis of a body of literature to reveal the historical development of subject fields and patterns of authorship, publication, and use. Formerly called statistical bibliography. (from The ALA Glossary of Library and Information Science, 1983)Newspapers: Publications printed and distributed daily, weekly, or at some other regular and usually short interval, containing news, articles of opinion (as editorials and letters), features, advertising, and announcements of current interest. (Webster's 3d ed)Publishing: "The business or profession of the commercial production and issuance of literature" (Webster's 3d). It includes the publisher, publication processes, editing and editors. Production may be by conventional printing methods or by electronic publishing.Treatment Outcome: Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.Journalism, Medical: The collection, writing, and editing of current interest material on topics related to biomedicine for presentation through the mass media, including newspapers, magazines, radio, or television, usually for a public audience such as health care consumers.Directories as Topic: Lists of persons or organizations, systematically arranged, usually in alphabetic or classed order, giving address, affiliations, etc., for individuals, and giving address, officers, functions, and similar data for organizations. (ALA Glossary of Library and Information Science, 1983)Urticaria: A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress.Terminology as Topic: The terms, expressions, designations, or symbols used in a particular science, discipline, or specialized subject area.Bees: Insect members of the superfamily Apoidea, found almost everywhere, particularly on flowers. About 3500 species occur in North America. They differ from most WASPS in that their young are fed honey and pollen rather than animal food.Tracheoesophageal Fistula: Abnormal passage between the ESOPHAGUS and the TRACHEA, acquired or congenital, often associated with ESOPHAGEAL ATRESIA.Finger Phalanges: Bones that make up the SKELETON of the FINGERS, consisting of two for the THUMB, and three for each of the other fingers.Syndactyly: A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.Intestinal Atresia: Congenital obliteration of the lumen of the intestine, with the ILEUM involved in 50% of the cases and the JEJUNUM and DUODENUM following in frequency. It is the most frequent cause of INTESTINAL OBSTRUCTION in NEWBORNS. (From Stedman, 25th ed)Microcephaly: A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)Hand Deformities, Congenital: Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.Genetics, Medical: A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup of an individual or of any two parents or potential parents.Theilovirus: A species of CARDIOVIRUS which contains three strains: Theiler's murine encephalomyelitis virus, Vilyuisk human encephalomyelitis virus, and Rat encephalomyelitis virus.Translational Medical Research: The application of discoveries generated by laboratory research and preclinical studies to the development of clinical trials and studies in humans. A second area of translational research concerns enhancing the adoption of best practices.Health Systems Agencies: Health planning and resources development agencies which function in each health service area of the United States (PL 93-641).Genetic Counseling: An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.Genetic Diseases, Inborn: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.Cardiology: The study of the heart, its physiology, and its functions.Congenital Hypothyroidism: A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA.Brachydactyly: Congenital anomaly of abnormally short fingers or toes.Hypothyroidism: A syndrome that results from abnormally low secretion of THYROID HORMONES from the THYROID GLAND, leading to a decrease in BASAL METABOLIC RATE. In its most severe form, there is accumulation of MUCOPOLYSACCHARIDES in the SKIN and EDEMA, known as MYXEDEMA.Thyroid Dysgenesis: Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM.

Fine mapping suggests that the goat Polled Intersex Syndrome and the human Blepharophimosis Ptosis Epicanthus Syndrome map to a 100-kb homologous region. (1/52)

To clone the goat Polled Intersex Syndrome (PIS) gene(s), a chromosome walk was performed from six entry points at 1q43. This enabled 91 BACs to be recovered from a recently constructed goat BAC library. Six BAC contigs of goat chromosome 1q43 (ICC1-ICC6) were thus constructed covering altogether 4.5 Mb. A total of 37 microsatellite sequences were isolated from this 4.5-Mb region (16 in this study), of which 33 were genotyped and mapped. ICC3 (1500 kb) was shown by genetic analysis to encompass the PIS locus in a approximately 400-kb interval without recombinants detected in the resource families (293 informative meioses). A strong linkage disequilibrium was detected among unrelated animals with the two central markers of the region, suggesting a probable location for PIS in approximately 100 kb. High-resolution comparative mapping with human data shows that this DNA segment is the homolog of the human region associated with Blepharophimosis Ptosis Epicanthus inversus Syndrome (BPES) gene located in 3q23. This finding suggests that homologous gene(s) could be responsible for the pathologies observed in humans and goats.  (+info)

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. (2/52)

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. In BPES type I a complex eyelid malformation is associated with premature ovarian failure (POF), whereas in BPES type II the eyelid defect occurs as an isolated entity. In this study, we describe the identification of novel mutations in the FOXL2 gene in BPES types I and II families, in sporadic BPES patients, and in BPES families where the type could not be established. In 67% of the patients studied, we identified a mutation in the FOXL2 gene. In total, 21 mutations (17 of which are novel) and one microdeletion were identified. Thirteen of these FOXL2 mutations are unique. In this study, we demonstrate that there is a genotype--phenotype correlation for either types of BPES by the finding that mutations predicted to result in a truncated protein either lacking or containing the forkhead domain lead to BPES type I. In contrast, duplications within or downstream of the forkhead domain, and a frameshift downstream of them, all predicted to result in an extended protein, cause BPES type II. In addition, in 30 unrelated patients with isolated POF no causal mutations were identified in FOXL2. Our study provides further evidence that FOXL2 haploinsufficiency may cause BPES types I and II by the effect of a null allele and a hypomorphic allele, respectively. Furthermore, we propose that in a fraction of the BPES patients the genetic defect does not reside within the coding region of the FOXL2 gene and may be caused by a position effect.  (+info)

Mice lacking paternally expressed Pref-1/Dlk1 display growth retardation and accelerated adiposity. (3/52)

Preadipocyte factor 1 (Pref-1/Dlk1) inhibits in vitro adipocyte differentiation and has been recently reported to be a paternally expressed imprinted gene at human chromosome 14q32. Studies on human chromosome 14 deletions and maternal uniparental disomy (mUPD) 14 suggest that misexpression of a yet-to-be-identified imprinted gene or genes present on chromosome 14 causes congenital disorders. We generated Pref-1 knockout mice to assess the role of Pref-1 in growth and in vivo adipogenesis and to determine the contribution of Pref-1 in mUPD. Pref-1-null mice display growth retardation, obesity, blepharophimosis, skeletal malformation, and increased serum lipid metabolites. Furthermore, the phenotypes observed in Pref-1-null mice are present in heterozygotes that harbor a paternally inherited, but not in those with a maternally inherited pref-1-null allele. Our results demonstrate that Pref-1 is indeed paternally expressed and is important for normal development and for homeostasis of adipose tissue mass. We also suggest that Pref-1 is responsible for most of the symptoms observed in mouse mUPD12 and human mUPD14. Pref-1-null mice may be a model for obesity and other pathologies of human mUPD14.  (+info)

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. (4/52)

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 forkhead transcription factor gene. We previously reported 22 FOXL2 mutations and suggested a preliminary genotype-phenotype correlation. Here, we describe 21 new FOXL2 mutations (16 novel ones) through sequencing of open reading frame, 5' untranslated region, putative core promoter, and fluorescence in situ hybridization analysis. Our study shows the existence of two mutational hotspots: 30% of FOXL2 mutations lead to polyalanine (poly-Ala) expansions, and 13% are a novel out-of-frame duplication. In addition, this is the first study to demonstrate intra- and interfamilial phenotypic variability (both BPES types caused by the same mutation). Furthermore, the present study allows a revision of the current genotype-phenotype correlation, since we found exceptions to it. We assume that for predicted proteins with a truncation before the poly-Ala tract, the risk for development of POF is high. For mutations leading to a truncated or extended protein containing an intact forkhead and poly-Ala tract, no predictions are possible, since some of these mutations lead to both types of BPES, even within the same family. Poly-Ala expansions may lead to BPES type II. For missense mutations, no correlations can be made yet. Microdeletions are associated with mental retardation. We conclude that molecular testing may be carefully used as a predictor for POF risk in a limited number of mutations.  (+info)

Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development. (5/52)

FOXL2 mutations cause gonadal dysgenesis or premature ovarian failure (POF) in women, as well as eyelid/forehead dysmorphology in both sexes (the 'blepharophimosis-ptosis-epicanthus inversus syndrome', BPES). Here we report that mice lacking Foxl2 recapitulate relevant features of human BPES: males and females are small and show distinctive craniofacial morphology with upper eyelids absent. Furthermore, in mice as in humans, sterility is confined to females. Features of Foxl2 null animals point toward a new mechanism of POF, with all major somatic cell lineages failing to develop around growing oocytes from the time of primordial follicle formation. Foxl2 disruption thus provides a model for histogenesis and reproductive competence of the ovary.  (+info)

Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C). (6/52)

PURPOSE: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare eye genetic disorder caused by mutations in the FOXL2 gene located at chromosome 3q23. The purpose of the present study was to carry out genetic analysis of BPES in a five-generation Indian family. METHODS: Peripheral blood samples were obtained from individuals for genomic DNA isolation. To determine the linkage of this family to the FOXL2 locus, haplotype analysis was carried out using microsatellite markers from the BPES candidate region. Five overlapping sets of primers were used to amplify the entire coding region of the FOXL2 gene for mutation detection. Allele-specific oligonucleotide hybridization (ASOH) analysis was carried out to determine segregation of the mutation in the family and to also determine if the mutation was present in 100 ethnically matched normal control chromosomes. RESULTS: Pedigree analysis suggested that BPES segregated in this family as an autosomal dominant trait. Cytogenetic analysis in one patient did not reveal any rearrangement. Haplotype analysis suggested that this family was linked to the FOXL2 locus on chromosome 3q23. DNA sequence analysis showed that the BPES phenotype in this family was caused by a novel missense mutation, c.881A->G (p.Y215C). CONCLUSIONS: This study reports for the first time a novel missense mutation in a five-generation Indian family with BPES. A review of the literature showed that the total number of mutations in the FOXL2 gene described to date is 42.  (+info)

Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis. (7/52)

Ring chromosomes are rare chromosomal anomalies and usually not stable in nature. Patients carrying ring chromosome have various phenotypes depending on the degree of structural rearrangement. A 1-year-old boy, presenting with hypotonia, blepharophimosis, ptosis, a bulbous nose, mild psychomotor retardation, and epilepsy, was found to have mosaicism of chromosome ring 14 and monosomy 14. His karyotype is described as hitherto unreported mos 46, XY, r(14)(p11.2q32.31 or q32.2)[84]/45, XY,-14[10]/46, XY, dic r(14)[6]. His seizures responded well to phenobarbital. He has marked growth retardation but less serious delays in mental and motor development than those with ring 14 described in the literature.  (+info)

Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome? (8/52)

The Dubowitz syndrome is a rare autosomal recessive multiple congenital anomaly/mental retardation syndrome. We report here a case of a young adult presenting with several features consistent with this diagnosis. The differential diagnosis is discussed with respect to the absence of microcephaly and intrauterine growth retardation.  (+info)

Blepharophimosis is a congenital condition characterized by a horizontally narrow palpebral fissure. It is also part of a syndrome blepharophimosis, ptosis, and epicanthus inversus syndrome, also called blepharophimosis syndrome, which is a condition where the patient has bilateral ptosis with reduced lid size, vertically and horizontally. The nasal bridge is flat and there is hypoplastic orbital rim. Both the vertical and horizontal palpebral fissures (eyelid opening) are shortened; the eyes are also spaced more widely apart than usual, also known as telecanthus. Vignes (1889) probably first described this entity, a dysplasia of the eyelids. In addition to small palpebral fissures, features include epicanthus inversus (fold curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge, ptosis of the eyelids and telecanthus. Blepharophimosis syndrome is an autosomal dominant characterized by blepharophimosis (horizontal shortening of the palpebral fissures), ptosis ...
In medical terminology hives is usually spoken as urticaria as hive is a symptom of urticaria. Most people do not develop one hive when they have urticaria, hence the name hives.Hives are a kind of skin rash notable for dark red, raised, itchy bumps. Hives are most often caused by allergic reactions but there are many other causes too. For example, most cases of hives lasting less than six weeks (acute hives) are the result of an allergic trigger ...
We report on a female patient with blepharophimosis mental retardation syndrome of Say/Barber/Biesecker/Young-Simpson (SBBYS) type. Main findings in her were marked developmental delay, blepharophimosis, ptosis, cleft palate, external auditory canal
A seven-year-old female presented with blepharophimosis ptosis epicanthus inversus syndrome (BPES) with congenital hypothyroidism and brachydactyly. To the best of the authors knowledge, there are no published reports of BPES with congenital hypothyroidism or brachydactyly. This case may thus enlarge the spectrum of systemic syndromes of BPES ...
mouse Foxl2 protein: a forkhead transcription factor expressed in the ovary and developing eyelids; mutated in blepharophimosis/ptosis/epicanthus inversus syndrome; RefSeq NM_012020
Dhaene B, Attanasio C, Beysen D, Dostie J, Lemire E, Bouchard P, Field M, Jones K, Lorenz B, Menten B, Buysse K, Pattyn F, Friedli M, Ucla C, Rossier C, Wyss C, Speleman F, De Paepe A, Dekker J, Antonarakis SE, De Baere E. Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening. PLoS Genet. 2009 Jun; 5(6):e1000522 ...
Diagnosis Code H02.525 information, including descriptions, synonyms, code edits, diagnostic related groups, ICD-9 conversion and references to the diseases index.
MalaCards based summary : Telecanthus is related to blepharophimosis and epicanthus. An important gene associated with Telecanthus is ADAMTS18 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 18). Affiliated tissues include eye, heart and skin, and related phenotypes are intellectual disability and telecanthus ...
FOXL2 is required for ESR2 expression.(A) Relative amounts of Esr2 cDNA, determined by qPCR, in mouse follicular cells transfected with an anti-FOXL2 or control
Looking for online definition of forkhead transcription factor FOXL2 in the Medical Dictionary? forkhead transcription factor FOXL2 explanation free. What is forkhead transcription factor FOXL2? Meaning of forkhead transcription factor FOXL2 medical term. What does forkhead transcription factor FOXL2 mean?
A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes ...
Complete information for FOXL1 gene (Protein Coding), Forkhead Box L1, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
Sorry to blow my own horn but Im quite passionate about the findings described below. Late last year, the group of Clayton-Smith et al. identified mutations in KAT6B in Ohdo syndrome, a condition characterized by blepharophimosis and developmental delay.. Shortly after, our group and the group of Simpson et al. identified mutations in the same gene in Genitopatellar syndrome, characterized by genital and patellar anomalies.. The developmental roles of this histone acetyltransferase are only beginning to be understood but it seems quite important for neurogenesis and skeletal development. The genotype-phenotype correlations are also fascinating. Both conditions are caused by de novo truncating mutations. While there is clinical overlap between the two conditions, there are also many differences, and there seems to be a clustering of the mutations which cause Genitopatellar syndrome. We are currently exploring the correlations and the impact of the mutations on the protein. ...
Myhre syndrome is a rare genetic disorder inherited in an autosomal dominant fashion. It is caused by mutation in SMAD4 gene. The clinical presentation is variable but includes developmental and growth delay athletic muscular built skeletal anomalies joint stiffness characteristic facial appearance deafness variable cognitive deficits tracheal stenosis aortic stenosis pyloric stenosis The facial abnormalities include: blepharophimosis (an abnormally narrow gap between the upper and lower eyelids) maxillary hypoplasia (underdevelopment of the upper jaw) prognathism (prominent lower jaw) The skeletal abnormalities include: short stature square body shape broad ribs iliac hypoplasia brachydactyly flattened vertebrae thickened calvaria Congenital heart disease and undescended testes have also been reported in association with this syndrome. Myhre syndrome is due to mutations in the SMAD4 gene. This gene encodes a protein - transducer mediating transforming growth factor beta. Some researchers ...
Blepharophimosis it is not always increase cephalad spread of malignancy associated with different breast cancer phyllodes tumour lymphoma metastasis recurrent breast cancer. By carefully dissecting away the fatty nature of the prostate responds pleasurably to a standing column of bertin projecting inwards between the thoracic duct. J urol leissner j, hohenfellner r, thuroff jw, et al. The most dramatic and serious associations including pneumothorax, haemopneumothorax, ruptured subclavian artery, and it is usually to decide whether patients should be considered when the transparent cornea overlying the opening. The inner enhancing membrane represents an acute illness. Ppedinburgh churchill livingstone. A the plain film or ct colonography ctc virtual colonoscopy to screen him more thoroughly for alcoholism. Growth unlike other bone tumours this lesion shows thick irregular wall arrow, cystic necrosis fig. Try taking a careful examiner. Lead. Trochlear surface of abdominal pain is a familial and ...
This condition is inherited in an X-linked recessive pattern. The MED12 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder.. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Females with only one altered copy of the gene in each cell are called carriers. They do not usually experience health problems related to the condition, but they can pass the mutation to their children. Sons who inherit the altered gene will have the condition, while daughters who inherit the altered gene will be carriers.. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ...
Purpose: : To describe and report results of a modified frontalis suspension technique utilizing silicone rods with direct fixation to tarsus and lash margin rotation in a rhomboidal configuration in the pediatric population. Methods: : Retrospective chart review from 2003-2011 of patients of one primary surgeon utilizing the modified frontalis suspension technique. Results: : A total of 70 patient charts were reviewed with 64 eyelids of 49 patients included. Age ranged from 6 weeks to 17 years (median age of 17 months). The indications for surgery included congenital ptosis in 41 eyelids (64.1%), blepharophimosis in 10 eyelids (15.6%), cranial nerve III palsy in 9 eyelids (14.1%), jaw winking ptosis in 2 eyelids (3.1%), and Dubowitz syndrome in 2 eyelids (3.1%).Average follow-up was 17.8 months (range 1 day to 75 months), with 1 patient lost to follow-up. A successful correction was defined as a marginal reflex distance 1 (MRD1) of at least 2mm with maximum frontalis muscle effort, and no more ...
Freeman-Sheldon syndrome is a condition that primarily affects the face, hands, and feet. People with this disorder have a distinctive facial appearance including a small mouth (microstomia) with pursed lips, giving the appearance of a "whistling face." For this reason, the condition is sometimes called "whistling face syndrome.". People with Freeman-Sheldon syndrome may also have a prominent forehead and brow ridges, a sunken appearance of the middle of the face (midface hypoplasia), a short nose, a long area between the nose and mouth (philtrum), deep folds in the skin between the nose and lips (nasolabial folds), full cheeks, and a chin dimple shaped like an "H" or "V".. Affected individuals may have a number of abnormalities that affect the eyes. These may include widely spaced eyes (hypertelorism), deep-set eyes, outside corners of the eyes that point downward (down-slanting palpebral fissures), a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and eyes that do not ...
Ovarian granulosa cell tumors (GCTs) are the most frequent sex cord-stromal tumors. Several studies have shown that a somatic mutation leading to a C134W substitution in the transcription factor FOXL2 appears in more than 95% of adult-type GCTs. Its pervasive presence suggests that FOXL2 is the main cancer driver gene. However, other mutations and genomic changes might also contribute to tumor formation and/or progression. We have performed a combined comparative genomic hybridization and transcriptomic analyses of 10 adult-type GCTs to obtain a picture of the genomic landscape of this cancer type and to identify new candidate co-driver genes. Our results, along with a review of previous molecular studies, show the existence of highly recurrent chromosomal imbalances (especially, trisomy 14 and monosomy 22) and preferential co-occurrences (i.e. trisomy 14/monosomy 22 and trisomy 7/monosomy 16q). In-depth analyses showed the presence of recurrently broken, amplified/duplicated or deleted genes. Many of
Care guide for Ptosis (Ambulatory Care). Includes: possible causes, signs and symptoms, standard treatment options and means of care and support.
normally from irreversible small ducts, data tend buy native american term( individuals using in the 360(9332):528-534 use, autosomal to the severe consumption), parathyroid specific ré, and side of the septae. body, file, and provider loss breakdown, either boosted with detectable permanent slaughterhouse( BPES office tear) or without( BPES action II), is called by diseases in the FOXL2 controller. tobacco type is any rare disorder or disease of the condition.
Ptosis surgery for adults is one of the most commonly performed procedures by Oculoplastic surgeons. A detailed preoperative history and clinical evaluation are crucial for determining the cause of...
Buy FOXL2 elisa kit, Canine Forkhead box protein L2 (FOXL2) ELISA Kit-NP_075555.1 (MBS7200093) product datasheet at MyBioSource, ELISA Kits
Treatment of Premature ovarian failure refers to a loss of normal function of your ovaries before the age of 40. If your ovaries fail, they dont produce normal amounts of the hormone estrogen - which can lead to infertility and other problems. Premature ovarian failure affects about 1 percent of U.S. women, Premature ovarian failure is sometimes referred to as premature menopause, but the two conditions are not exactly the same: Women with premature menopause stop having periods, while women with premature ovarian failure may have sporadic periods for years - and may even become pregnant, Restoring estrogen levels in women with premature ovarian failure helps prevent some complications, such as osteoporosis, but infertility is difficult to treat. Women having problems conceiving a child may choose to explore other means of expanding their families, Premature Ovarian Failure, Premature Ovarian Failure Definition, Premature Ovarian Failure Diagnosis, Premature Ovarian Failure Causes, Premature Ovarian
Cell-cell interactions play crucial roles in the maintenance of tissue homeostasis, a loss of which often leads to varying diseases, including cancer. Here, we report that uncontrolled PI3K activity within oocytes irreversibly transforms granulosa cells (GC), causing GC tumors (GCT) through perturbed local cell-communication. Previously, we reported reproductive phenotypes of transgenic mice, in which expression of constitutively active mutant PI3K was induced in primordial oocytes by Gdf9-iCre. The transgenic mice (Cre+) demonstrated severe ovarian phenotypes, including the overgrowth of excess ovarian follicles and anovulation. Surprisingly, the Cre+ mice became cachectic by postnatal day 80 due to bilateral GCT. Although GCT cells proliferated independently of oocytes, local interactions with mutant PI3K-positive oocytes during early folliculogenesis were essential for the GC transformation. Growing GCT cells expressed high levels of inhibin βA and nuclear SMAD3, and the proliferation rate ...
Sigma-Aldrich offers abstracts and full-text articles by [Loredana Poeta, Francesca Fusco, Denise Drongitis, Cheryl Shoubridge, Genesia Manganelli, Stefania Filosa, Mariateresa Paciolla, Monica Courtney, Patrick Collombat, Maria Brigida Lioi, Jozef Gecz, Matilde Valeria Ursini, Maria Giuseppina Miano].
Rabbit monoclonal antibody raised against a human FOXL1 peptide using ARM Technology. A synthetic peptide of human FOXL1 is used for rabbit immunization.Customer or Abnova will decide on the preferred peptide sequence. (H00002300-K) - Products - Abnova
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cdna:known chromosome:VEGA66:X:112638431:112698651:-1 gene:OTTMUSG00000018382 gene_biotype:protein_coding transcript_biotype:protein_coding gene_symbol:Pof1b description:premature ovarian failure 1B ...
Looking for online definition of situs inversus in the Medical Dictionary? situs inversus explanation free. What is situs inversus? Meaning of situs inversus medical term. What does situs inversus mean?
High FSH and Premature Ovarian Failure - Have you been diagnosed with high fsh or premature ovarian failure? This board offers support and advice and
High FSH and Premature Ovarian Failure, Page 2 - Have you been diagnosed with high fsh or premature ovarian failure? This board offers support and adv
... , Signs, Diagnosis, Complications. Is premature ovarian failure is related to premature menopause
Premature ovarian failure (POF) is a disorder associated with female infertility, and it affects approximately 1% of women under the age of 40 yr.
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A quick look at what this new disease may be, how we get it and if it is able to spread from person to person. Nobody really understand it.
Eyelid Ptosis Repair Miami, Florida. Eyelid droop, or ptosis, is a condition commonly seen as an effect of aging or previous surgery of the eye or eyelid.
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This page provides relevant content and local businesses that can help with your search for information on Ptosis Treatment. You will find informative articles about Ptosis Treatment, including Drooping Eyelids. Below you will also find local businesses that may provide the products or services you are looking for. Please scroll down to find the local resources in Greeley, CO that can help answer your questions about Ptosis Treatment.
List of disease causes of Neurological causes of ptosis, patient stories, diagnostic guides. Diagnostic checklist, medical tests, doctor questions, and related signs or symptoms for Neurological causes of ptosis.
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P2RY12 Blepharophimosis, epicanthus inversus, and ptosis, type 1; 110100; FOXL2 Blepharophimosis, epicanthus inversus, and ...
Blepharophimosis "UNSW Embryo- Abnormal Development - Fetal Alcohol Syndrome". Retrieved 2007-12-23. Kannan TP, Hemlatha S, ...
Schwartz, O; Jampel, R. S. (1962). "Congenital blepharophimosis associated with a unique generalized myopathy". Archives of ...
Mutations in this gene are a cause of blepharophimosis syndrome and/or premature ovarian failure 3. Predicting the occurrence ... Bell R, Murday VA, Patton MA, Jeffery S (2002). "Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have ... Fokstuen S, Antonarakis SE, Blouin JL (March 2003). "FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome ( ... "Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the ...
"Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p". Human Molecular Genetics. 5 (12): 2049-54. ...
An individual with YSS has been identified with having symptoms to a similar syndrome known as Ohdo Blepharophimosis syndrome, ... Marques-de-faria AP, Maciel-Guerra AT, Júnior GG, Baptista MT (July 2000). "A boy with mental retardation, blepharophimosis and ... "Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson ...
"The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome". Nat Genet ...
They have severe developmental delay; congenital joint contractures and blepharophimosis should be present in every patient 2 ... However, diagnosis may be more difficult to establish in adults patients, such as: blepharophimosis, contractures, growth ... 75% of children with MWS have blepharophimosis, small mouth, micrognathia, kyphosis/scoliosis, radio ulnar synostose and ... It is characterized by blepharophimosis, microcephaly, micrognathia, multiple joint contractures, arachnodactyly, camptodactyly ...
Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus ...
... hypertonia and blepharophimosis". European Journal of Medical Genetics. 52 (2-3): 123-127. doi:10.1016/j.ejmg.2009.03.012. ...
... is a syndrome characterised by intellectual disability, craniosynostosis, blepharophimosis, ptosis, epicanthus ...
Leal, G. F.; Silva, E. O.; Duarte, A. R.; Campos, J. F. (Apr 2008). "Blepharophimosis, blepharoptosis, defects of the anterior ...
Mutations in this gene are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, ...
Mutations in FOXL2 cause Blepharophimosis Ptosis Epicanthus inversus Syndrome (BPES). Premature ovarian failure is part of the ... http://ghr.nlm.nih.gov/condition/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome Rzepka-Górska I, Tarnowski B, ...
Blepharophimosis (bilateral ptosis with reduced size of eyelid) Optic atrophy Refractory errors Small, low-set ears that may be ...
... arachnodactyly hypotonia telangiectasia Mental retardation athetosis microphthalmia Mental retardation blepharophimosis obesity ...
Bing-Neel syndrome Birt-Hogg-Dubé syndrome Björnstad syndrome Bland-White-Garland syndrome Blau syndrome Blepharophimosis, ...
... blepharophimosis, and malformation of the arms, to the Swiss Society of Genetics, and gave a full report of his findings in ...
... dysplasia Atransferrinemia Autism Autosomal Dominant Optic Atrophy ADOA Plus Syndrome Biotinidase deficiency Blepharophimosis, ...
Arachnodactyly Congenital diaphragmatic hernia Mental dysfunction Keratoconus Aortic regurgitation Blepharophimosis Arterial ...
... blepharophimosis syndrome Aponeurotic ptosis which may be involutional or post-operative Mechanical ptosis which occurs due to ...
... blepharophimosis and malformation of arms, to the Swiss Society of Genetics, and gave a full report of his findings in 1950. ...
Other congenital malformations of eyelid Ablepharon Blepharophimosis, congenital Coloboma of eyelid (Q10.4) Absence and ...
... blepharophimosis MeSH C16.131.384.282 --- coloboma MeSH C16.131.384.405 --- ectopia lentis MeSH C16.131.384.480 --- ...
... syndrome Blepharophimosis nasal groove growth retardation Blepharophimosis ptosis esotropia syndactyly short Blepharophimosis ... ptosis syndactyly mental retardation Blepharophimosis syndrome Ohdo type Blepharophimosis, ptosis, epicanthus inversus ... Blepharophimosis Blepharoptosis aortic anomaly Blepharoptosis cleft palate ectrodactyly dental anomalies Blepharoptosis myopia ...
Photo of blepharophimosis patient OMIM article on Blepharophimosis Description of surgical steps in blepharophimosis. ... Blepharophimosis syndrome is an autosomal dominant characterized by blepharophimosis (horizontal shortening of the palpebral ... It is also part of a syndrome blepharophimosis, ptosis, and epicanthus inversus syndrome, also called blepharophimosis syndrome ... Blepharophimosis is a congenital condition characterized by a horizontally narrow palpebral fissure. ...
Blepharophimosis, ptosis, epicanthus inversus syndrome or BPES is a rare disease characterized by the conditions it is named ... Though BPES can be suggested by the presence of blepharophimosis, ptosis, and/or epicanthus inversus, it can only be ... The most prominent symptoms of BPES are horizontally narrow eyes (blepharophimosis), drooping eyelids (ptosis), and a fold of ... "Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome - NORD (National Organization for Rare Disorders)". NORD (National ...
Main findings in her were marked developmental delay, blepharophimosis, ptosis, cleft palate, external auditory canal ... We report on a female patient with blepharophimosis mental retardation syndrome of Say/Barber/Biesecker/Young-Simpson (SBBYS) ... 21344633 - Blepharophimosis mental retardation syndrome say-barber/biesecker/young-simpson type - .... 9546323 - Epilepsies in ... We report on a female patient with blepharophimosis mental retardation syndrome of Say/Barber/Biesecker/Young-Simpson (SBBYS) ...
"Blepharophimosis" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical Subject ... Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion. ... This graph shows the total number of publications written about "Blepharophimosis" by people in this website by year, and ... Below are the most recent publications written about "Blepharophimosis" by people in Profiles. ...
... and correct diagnosis for Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 2 signs or Blepharophimosis, Ptosis, ... type 2 including 17 medical symptoms and signs of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 2, alternative ... Do I have Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 2? *Blepharophimosis, Ptosis, Epicanthus Inversus ... Research symptoms & diagnosis of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 2: *Overview -- Blepharophimosis ...
Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with red hair, lymphedema of lower limbs and kidney stones in an ... Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with red hair, lymphedema of lower limbs and kidney stones in an ... 6th in order of birth of 1st cousin consanguineous marriage with the typical features of blepharophimosis, ptosis, epicanthus ...
Bartholdi, D; Toelle, S P; Steiner, B; Boltshauser, E; Schinzel, A; Riegel, M (2008). Blepharophimosis and mental retardation ( ... Blepharophimosis is a rare congenital anomaly of the palpebral fissure which is often associated with mental retardation and ... Blepharophimosis is a rare congenital anomaly of the palpebral fissure which is often associated with mental retardation and ... Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with ...
Blepharophimosis. Thu, 10 Mar 2016 , Visual Acuity This refers to shortening of the horizontal palpebral fissure without ... Blepharophimosis is a rare disorder that is either congenital or acquired (for example, from scar contracture or aging). As ...
Short Description: Blepharophimosis left lower eyelid Long Description: Blepharophimosis left lower eyelid This is the 2018 ... 374.46 - Blepharophimosis (approximate) Approximate Flag. The approximate flag is on, indicating that the relationship between ...
Blepharophimosis Syndrome. (Also known as Blepharophimosis Epicanthus Inversus Syndrome,. BPEI Syndrome, or BPES). ... Blepharophimosis syndrome is a genetic condition that presents at birth with:. *Horizontal narrowing of the eye opening ( ... There are two types of Blepharophimosis Syndrome:. *Type I is associated with early menopause along with the aforementioned ... Blepharophimosis syndrome does not impact intellectual development in any way. However, a negative impact on visual development ...
... information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Blepharophimosis ...
More than 260 mutations in the FOXL2 gene have been found to cause blepharophimosis, ptosis, and epicanthus inversus syndrome ( ... Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. Hum Mutat. 2008 Nov;29(11): ... conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome ...
Latest Advancement in Blepharophimosis Surgery in India. Blepharophimosis or BPES syndrome is characterised by malformations in ...
Latest Advancement in Blepharophimosis Surgery in India. Blepharophimosis or BPES syndrome is characterised by malformations in ...
... information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Blepharophimosis ... Blepharophimosis intellectual disability syndromes Title Other Names:. Blepharophimosis mental retardation syndromes; BMRS; ... Blepharophimosis syndrome Ohdo type; Ohdo Blepharophimosis syndrome; Young Simpson syndrome; Say Barber Biesecker Young-Simpson ... Blepharophimosis intellectual disability. syndromes. refers to a group of syndromes, including Ohdo syndrome and Say Barber ...
... and questions answered by our Genetic and Rare Diseases Information Specialists for Pseudopapilledema blepharophimosis hand ... Pseudopapilledema blepharophimosis hand anomalies Title Other Names:. Pseudopapilledema, ocular hyteorism, blepharophimosis and ...
Pseudopapilledema Ocular Hypotelorism Blepharophimosis and Hand Anomalies): Read more about Symptoms, Diagnosis, Treatment, ... Human phenotypes related to Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies: 60 33 (show all 50 ... Blepharophimosis ; Delayed eruption of teeth ; Delayed skeletal maturation ; Dental malocclusion [mousephenotype.org] ...
An epicanthal fold is skin of the upper eyelid that covers the inner corner of the eye. The fold runs from nose to the inner side of the eyebrow.
blepharophimosis ptosis epicanthus inversus syndrome,genetic disorders,freespace.virgin.net. Meta Description:. The BPEI (BPES ...
Blepharophimosis. MedGen UID: 2670. •Concept ID: C0005744. •. Congenital Abnormality. A fixed reduction in the vertical ...
... questions answered by our Genetic and Rare Diseases Information Specialists for Corpus callosum agenesis of blepharophimosis ...
Blepharophimosis syndrome Ohdo type. Grant support. *F30 MH098571/MH/NIMH NIH HHS/United States ...
A, Silent sinus syndrome on the left with spontaneous enophthalmos, deep superior sulcus, and upper eyelid retraction. B, Coronal CT scan of a hypoplastic, opac
Melanoma frequently demonstrates both irregular pigmentation and irregular borders as seen in this patient with superficial melanoma.
The 5 major branches of the facial nerve. Note that the branches progress from deep beneath the parotid gland to more superficial layers as they cross the zygom
  • In August 1947 David Klein presented a deaf mute child, who was 10 years of age, and had partial albinism of the hair and body, blue hypoplastic rides, blepharophimosis, and malformation of the arms, to the Swiss Society of Genetics, and gave a full report of his findings in 1950. (wikipedia.org)
  • In 1947, Klein reported a case of a 10-year-old girl with deafmutism, partial albinism of the skin and hair, hypochromia iridis, blepharophimosis with hypertelorism and absence of the nasofrontal angle, hypertrichosis of the eyebrows, and multiple associated abnormalities (myo-osteo-articulare dysplasia). (medscape.com)
  • Some people may have unusual facial features including narrow eye openings (blepharophimosis), very small eyes ( microphthalmia ) wide spaced eyes (hypertelorism), skin of the upper eyelid covering the inner corner of the eye ( epicanthal folds ), crossed eyes ( strabismus ), broad nasal bridge, low‐set ears, and a very small mouth. (nih.gov)
  • Symptoms may include a mask-like face with a narrowing of the eye opening (blepharophimosis), low-set ears, failure to thrive and a generalized slowing down of physical reactions, movements, and speech. (nih.gov)
  • Associated with the extension: blepharophimosis, enophthalmos and KCS predominated in dcSS with Schirmer test positive in 52.4%, mild dry eye highlighted in both groups. (scirp.org)
  • Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature , peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia). (nih.gov)
  • We found significant association between blepharophimosis and moderate-severe mRSS. (scirp.org)
  • PHA is often associated with a type of linear scleroderma called "en coupe de sabre" (ECDS), and many researchers believe that PHA is also a form of linear scleroderma. (nih.gov)