81. ORPHANET® : Base De Données Sur Les Maladies Rares Et Les Médicaments Orpheli popliteal pterygium syndrome popliteal pterygium syndrome lethal type Porencephaly cerebellar hypoplasia malformations Porencephaly, familial http://www.orpha.net/Pat/GBP.html

List of diseases starting by P P2Y12, deficiency of Pachydermoperiostosis Pachygyria joint contractures facial abnormalities Pachygyria mental retardation epilepsy ... 'Prune belly' syndrome List of diseases starting by P Pruritic urticarial papules and plaques of pregnancy Pseudoachondroplasia Pseudoachondroplastic dysplasia Pseudoadrenoleukodystrophy ... Pyruvate kinase deficiency

82. Medical Terminology - Medword Transcription Popliteal Popliteal fossa popliteal pterygium syndrome Porcine Porencephaly Porktapeworm Porphyria Portwine stain Portal vein Positional cloning http://www.medword.com/medterms_p.html

Medword Reference: Medical Terms P Find on this page: 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. p.o. p.r.n. PA (physician assistant) PA (posteroanterior) PA X-ray Pacemaker Pacemaker, internal Pacemaker, natural Pachyonychia congenita of the Jadassohn-Lewandowsk Pachyonychia congenita with natal teeth Pachyonychia congenita, type 1 Pacifier Paediatrics Paget's disease Pagetic Pain Pain management Pain, abdominal

83. 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

English Version Publications Authors Caron F. Pestel M. Kitzis MD. Lemeland JF. Humbert G. Gutmann L. Institution Groupe de Recherche sur les Anti-Microbiens, Hopital Charles Nicolle, Rouen, France. Title Comparison of different beta-lactam-glycopeptide-gentamicin combinations for an experimental endocarditis caused by a highly beta-lactam-resistant and highly glycopeptide-resistant isolate of Enterococcus faecium. Source Journal of Infectious Diseases. 171(1):106-12, 1995 Jan. Authors Favennec L. Comby E. Ballet JJ. Brasseur P. Title Serum IgA antibody response to Cryptosporidium parvum is mainly represented by IgA1 [letter]. Source Journal of Infectious Diseases. 171(1):256, 1995 Jan. Authors Bellissant E. Thuillez C. Richer C. Pussard E. Giudicelli JF. Institution Service de Pharmacologie Clinique, Hopital de Bicetre, Le Kremlin, France. Title Noninvasive assessment of regional arteriolar and arterial dilating properties of lisinopril in healthy volunteers. Source Journal of Cardiovascular Pharmacology. 24(3):500-8, 1994 Sep.

84. 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

85. TheFetus.net - Pterygium Syndrome Multiple Lethal -Luis A. Izquierdo, MD*, Teres Multiple pterygium syndrome presents with a distinct group of anomalies (see Table q popliteal. q flexion contracture of multiple joints. § Small chest http://www.thefetus.net/page.php?id=438

86. 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

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record 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

87. Clinical Dysmorphology - Abstract: Volume 10(3) July 2001 P 209-213 Popliteal Pt popliteal pterygium associated with neonatal Marfan syndrome case report*.Clinical Dysmorphology. 10(3)209213, July 2001. Derbent, Murat a; Gurakan, http://www.clindysmorphol.com/pt/re/mcd/abstract.00019605-200107000-00011.htm

LWWOnline LOGIN eALERTS REGISTER ... Archive Popliteal pterygium associated... ARTICLE LINKS: Fulltext PDF (594 K) Permissions Popliteal pterygium associated with neonatal Marfan syndrome: case report*. Clinical Dysmorphology. 10(3):209-213, July 2001. Derbent, Murat a; Gurakan, Berkan a; Saygil, Arda a; Baltaci, Volkan b; Balci, Sevim c Abstract: 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. Subscribe to RSS feed utrdc-pt02 Release 4.0

88. Syndrome, Popliteal Pterygium - Talk Medical Humanfriendly medical definition of syndrome, popliteal pterygium. http://www.talkmedical.com/medical-dictionary/13872/Syndrome-Popliteal-Pterygium

Home Medications Medical Dictionary Talk Medical ... Medical Dictionary Newsletter Subscribe to the free monthly health digest. Relevant health articles just for you. Tell a friend Syndrome, Popliteal Pterygium Syndrome, popliteal pterygium: See Popliteal web syndrome. Print this page About Talk Medical Help Contact Us ... Terms and Conditions

89. 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

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/

90. CHDD - Behavioral Science Core Pfeiffer syndrome. 1. Dr.Cunningham. poplitealpterygium syndrome. 1. Dr.Cunningham.Proteus syndrome. 2-20. Dr.Cunningham. Saethre-Chotzen syndrome http://depts.washington.edu/chdd/MRDDRC/cores/genetics_cellLine.html

91. Arch Pediatr Adolesc Med -- Abstract: Multiple Pterygium Syndrome, June 1978, Es Multiple pterygium syndrome. V. Escobar, D. Bixler, S. Gleiser, antecubital,and even popliteal areas; evidence supports autosomal recessive inheritance http://archpedi.ama-assn.org/cgi/content/abstract/132/6/609

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress 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 Multiple pterygium syndrome V. Escobar, D. Bixler, S. Gleiser, D. D. Weaver and T. Gibbs After treating a 12-year-old patient with multiple pterygium syndrome, we ascertained the minimal diagnostic criteria of pterygia in the neck, axilla, antecubital, and even popliteal areas; evidence supports autosomal recessive inheritance for this syndrome. HOME CURRENT ISSUE PAST ISSUES COLLECTIONS ... HELP

92. 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

Identification of two novel mutations of in Korean families affected with Van der Woude syndrome Abstract-9973554 We report a novel mutation of the in an Italian family with six members affected by VWS with different expression. Abstract-10206707 Subsequently, we identified mutations in in 45 additional unrelated families affected with VWS and distinct mutations in 13 families affected with PPS. Abstract-9390618 We found a nonsense mutation in in the affected twin of a pair of monozygotic twins who were discordant for VWS Abstract-9390618 Gene symbol: . Disease: Van der Woude syndrome Abstract-10496966 Gene symbol: . Disease: Van der Woude syndrome Abstract-10160725 Gene symbol: . Disease: Van der Woude syndrome Abstract-10160730 Gene symbol: . Disease: Van der Woude syndrome Abstract-10160731 Gene symbol: . Disease: Van der Woude syndrome Abstract-10160733 Gene symbol: . Disease: Van der Woude syndrome Abstract-10160729 Novel mutations in the gene for Van der Woude syndrome Abstract-9993357 Gene symbol . Disease: Van der Woude syndrome and popliteal pterygium Abstract-10160732 A novel mutation of the gene in an Italian family with Van der Woude syndrome Abstract-10206707 Here, we report two novel mutations of

93. Article : Case Report - Antenatal Ultrasound Diagnosis Of Multiple Pterygium Syn Multiple pterygium syndrome (MPS) is an autosomal recessive disorder Limited pterygia of the popliteal region can also be seen in a fetus with Caudal http://www.ijri.org/articles/archives/2002-12-4/obstetric_555.htm

Obstetric Case report: Antenatal ultrasound diagnosis of multiple pterygium syndrome N Bhargava, Lalendra Upreti, S. K. Bhargava, Shashank Jain Ind J Radiol Imag 2002 12:4:555-558 Keywords: Pterygium Syndrome 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.

94. 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

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

95. Van Der Woude Syndrome Definition - Medical Dictionary Definitions Of Popular Me regulatory factor 6) on chromosome 1. The same gene is mutated in the poplitealpterygium syndrome, another disorder with cleft lip/palate and lip pits. http://www.medterms.com/script/main/art.asp?articlekey=21336

96. 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

UNSW Embryology 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 ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, HAND AND FOOT DEFORMITY, AND MENTAL RETARDATION CLEFT LIP, CONGENITAL HEALED ACROFRONTOFACIONASAL DYSOSTOSIS SYNDROME ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE CLEFT LIP AND/OR PALATE WITH MUCOUS CYSTS OF LOWER LIP CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP AND CLEFT PALATE

97. 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

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: mounds or depressions (pits) on the lower lip cleft lip with or without cleft palate cleft palate alone missing teeth 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?

98. 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

99. 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

100. 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

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 Cleft Lip And Palate Gene Identified 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.

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