Extractions: These medical terms are in an alphabetized list including some medical phrases. This not a complete listing of course-just a sampling. Some examples of medical abbreviations, terms, diseases, syndromes, etc., are also sprinkled throughout the list. Medword provides this medical terms list in part so that those who are thinking of becoming a medical transcriptionist may see firsthand some of the terminology and phraseology used by MTs in their daily work. For those already performing medical transcription, the list is a good reference source. We have also complimented the medical terminology list with a text version for copying and adding to your medical spell-checking feature in your word processor if you wish. A B C D ... Z p.c.
Publication Biomédicales De Rouen - Mars 95 popliteal pterygium syndrome. A exceptional case. Review French OriginalTitle Syndrome des pterygium poplites. Une observation privilegiee. http://www.chu-rouen.fr/drrc/pub/pub9503.html
GeneticsPhdDepartment 6 (IRF6) cause two related orofacial clefting disorders, Van der Woudesyndrome (VWS; OMIM119300) and popliteal pterygium syndrome (PPS; OMIM119500). http://www.uiowa.edu/~genetics/GeneticsFSchutte.htm
Multiple Pterygium Syndrome Synonyms, Escobar syndrome. familial pterygium syndrome Skin Neck, axillary,antecubital, popliteal, intercural, and digital pterygia. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome471.html
Extractions: Syndrome multiple pterygium syndrome Synonyms Escobar syndrome familial pterygium syndrome pterygium colli syndrome pterygium syndrome pterygium universale Summary A rare syndrome of short stature, abnormal facies and webbing of the neck, antecubital, digital, popliteal, and intercural areas. Joint contractures, vertebral fusion defects, and rocker-bottom feet are usually associated. Major Features Head and neck: Epicanthal folds and small mandible with pointed receding chin, long philtrum, and syngnathia. Ears: Low-set ears. Eyes: Downslanting palpebral fissures, blepharoptosis, and puffiness about the eyes in some cases. Mouth and oral structures: Downturned angles of the mouth, lip pits, occasional cleft palate, and spoonlike shape of the tongue (lingua cochlearis). Neck: Pterygia. Hand and foot: Soft tissue syndactyly of the fingers, flexion deformity of the fingers and thumbs, talipes calcaneovalgus, and rocker-bottom feet, Extremities: Popliteal pterygia
Extractions: This report describes the case of a male infant with neonatal Marfan syndrome who also exhibited popliteal pterygia. The patient's father had classic Marfan syndrome. The differential diagnosis in the neonatal case included congenital contractural arachnodactyly (Beals syndrome) and various forms of popliteal pterygium syndrome. We note the diagnostic features of the case, discuss the novel finding of pterygia in association with neonatal Marfan syndrome, and highlight the possible role of collagen defects in the pathogenesis of limb pterygia.
Syndrome, Popliteal Pterygium - Talk Medical Humanfriendly medical definition of syndrome, popliteal pterygium. http://www.talkmedical.com/medical-dictionary/13872/Syndrome-Popliteal-Pterygium
Associated Syndromes And Conditions In some instances, the syndrome is also associated with physical problems popliteal pterygium. Extremely rare inherited disorder apparent at birth and http://www.pierrerobin.org/associatedconditions.htm
Extractions: Home New parents About Us Support ... Message Board A place to call home, where you are never alone Associated Syndromes and Conditions As we continue to reach out to families who have a member affected by PRS, we have found there is usually another condition present. Through our reading, we have found several case studies which indicate only 15-17% of those with PRS have isolated PRS. The conditions we list below are shown to make you aware of what else could be present in a child with PRS. This list was compiled using data from the families in our organization and material from medical articles we have read. We have tried to list basic symptoms, links to medical articles and links to support groups for that particular condition. This is still under construction due to the research involved. If you have information based on your own experience you can add to this page, please email webmaster@pierrerobin.org Our members felt it important to list these, so families will be aware of other conditions that can be present. You need to discuss these issues and your child's symptoms with a geneticist. ADAM Sequence Beckwith-Wiedemann http://beckwith-wiedemann.org/
Extractions: Vol. 132 No. 6, June 1978 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager Articles in PubMed by Escobar V Gibbs T Contact me when this article is cited V. Escobar, D. Bixler, S. Gleiser, D. D. Weaver and T. Gibbs
VWS - Van Der Woude Syndrome Disease Van der Woude syndrome and popliteal pterygium. Abstract10160732.Here, we report two novel mutations of IRF6 in two unrelated Korean families http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/93080.html
Extractions: Introduction Multiple pterygium Syndrome (MPS) is a rare autosomal recessive disorder characterized by multiple flexion contractures with skin webs across the joints, hydrops fetalis, polyhydramnios and hypoplastic lungs. [1] Two types have been described: the classical form appearing in children and adolescents, and the lethal form involving abortuses and stillbirths [1]. Antenatal ultrasound examination can establish the correct diagnosis by identifying the major features. We report a second trimester pregnancy termination in a woman following intra uterine findings of hydrops fetalis, polyhydramnios, lack of fetal movements and short, fixed malformed limbs. Early prenatal diagnosis of this condition is possible using ultrasound as early as in the early second trimester. Multiple etiologies have been described which would be discussed. [2] Figure 1: Longitudinal section of the fetal neck-subcutaneous edema and short neck.
99-1-5 Alt ekstremitelerde pterigiumlarla giden popliteal web sendromu ayirici tanida Lethal multipl pterygium syndrome three consecutive cases in one family. http://www.cu.edu.tr/fakulteler/tf/tfd/99-1-5.htm
Extractions: ÇUKUROVA ÜNÝVERSÝTESÝ TIP FAKÜLTESÝ DERGÝSÝ Sayfa: 24-26, Cilt: 24 , Sayý: Multipl pterigium sendromu: bir olgu sunumu Dr.Münevver TÜRKMEN , Dr.Dilara SÜLEYMANOVA Adnan Menderes Üniversitesi Týp Fakültesi Çocuk Saðlýðý ve Hastalýklarý ABD. AYDIN, Ç.Ü. Týp Fakültesi Týbbý Biyoloji ve Genetik ABD. Balcalý/ADANA ÖZET: Pterigium sendromu, multipl pterigium sendromu, pterygium colli sendromu olarak adlandýrýlan bu antite; boyunda, antekubital ve popliteal fossada yelelenme (webbing), göðüs deformiteleri, skolyoz (vertebra anomalileri), sindaktili, kamptodaktili, boy kýsalýðý, min r yüz anomalileri ve yarýk damak ile karakterizedir. Genetik geçiþi konusunda çeþitli görüþler varsa da otosomal resesif kalýtým þekli kabul görmüþtür. Burada akraba evliliði sonucu doðan, dismorfik yüz görünümü, boyunda yelelenme, dirsekler de, omuz, diz ekleminin arkasýnda, kalça ekleminin ön yüzünde deri kývrýmlarý (pterigium) ve göðüs kafesinde deformiteleri, kriptorþidizmi olan multipl pterigium sendromu tanýsý konan bir olgu genetik danýþma verilmesi nedeniyle sunulmuþtur. Anahtar kelimeler: Multipl pterigium sendromu, Otosomal resesif kalýtým
UNSW Embryology-OMIM Cleft Lip List *119500 CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEALPTERYGIUM, DIGITAL AND GENITAL 108300 STICKLER syndrome, TYPE I; STL1 http://embryology.med.unsw.edu.au/OMIMfind/head/OMIM-cleftlip_list.htm
Extractions: HEAD AND NECK DEVELOPMENT Embryology Home Page Select Entries from OMIM Online Mendelian Inheritance in Man (Internet Link) This page is for computers without external internet access. Internet access computers can see the full description of the abnormality from the links below. Back to UNSW Embryology-Head and Neck Notes 154 entries found, searching for "cleft lip" OROFACIAL CLEFT 1; OFC1
Craniofacial Center Collaboratory (Van Der Woude Syndrome) Mutations in the IRF6 gene cause VWS and a related condition called the poplitealpterygium syndrome (PPS). Clinical testing for the diagnosis of VWS will http://craniofacialcenter.uiowa.edu/center/vws.php
Extractions: Van der Woude Syndrome Learn about Van der Woude Syndrome What is Van der Woude Syndrome (VWS)? Clefts of the lip or palate have many causes. One cause is Van der Woude Syndrome (VWS), an inherited disorder. Inherited disorders are passed from parent to child through genes. About three percent of people with a cleft have VWS. Features of VWS include: People who show signs of VWS can have one or more of these features. It is the lip pits or mounds that help set VWS apart from other types of cleft syndromes. Lip mounds (top) and lip pits (bottom) in patients with VWS What causes VWS? Genes, the basic unit of heredity, contain blueprints for human growth and development. Genes are found on chromosomes. Humans have 46 chromosomes, 23 coming from the mother and 23 coming from the father. A change or alteration in a single gene on chromosome number one causes VWS. Of the people who inherit this altered gene, 95 percent have some features of VWS. Some people who inherit an altered VWS gene do not show any features. Can future children have VWS?
The University Of Manchester :: People :: Professor Michael Dixon Treacher Collins syndrome, PapillonLefevre syndrome, Van der Woude/poplitealpterygium syndrome, amelogenesis imperfecta, and dentine dysplasia. http://www.knowledgehorizons.manchester.ac.uk/people/index.asp?personID=58
NORD - National Organization For Rare Disorders, Inc. National Organization for Rare Disorders is dedicated to helping people withrare, orphan diseases. Rarediseases.org contains information on the prevention, http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Anemia, Aplas
Cleft Lip And Palate Gene Identified The research paper, entitled Mutations in IRF6 cause Van der Woude and poplitealpterygium syndromes , is published in Nature Genetics (Volume 32 October http://www.wellcome.ac.uk/doc_WTD002840.html
Extractions: var g_HttpRelativeWebRoot = "/stellent/"; var SSContributor = false; g_HttpRelativeWebRoot = "/stellent/";SSContributor = false; About this site Sitemap Contact us Funding ... Press releases Cleft Lip And Palate Gene Identified What we do Our organisation Jobs at Wellcome Governance ... Public access Jointly issued by the Wellcome Trust and Action Research UK scientists have made a genetic breakthrough into a type of cleft lip and palate, a distressing but common birth defect. Using information from the Human Genome Project, Manchester-based researchers have helped identify the crucial faulty gene that causes Van der Woude syndrome, an inherited form of cleft lip and palate that can cause severe facial disfigurements in babies. The discovery, a result of an international collaboration between the UK and the US and published online in the journal Nature Genetics on Tuesday 3 September, will have a positive impact on genetic counselling for parents. In the long-term, it could lead to better understanding of why and how cleft lip and palate occurs, and could lead to treatments during pregnancy that might prevent the development of the condition. Professor Michael Dixon led the UK research at the University of Manchester, thanks to funding by both the national medical charity Action Research, and the Wellcome Trust.
