41. Medicalseek - Search Engine For The Healthcare Industry FORUMS. Home HealthShop Diet Prescriptions Women Men. Conditionsand Diseases Genetic Disorders popliteal pterygium syndrome. http://www.medicalseek.net/Conditions_and_Diseases_Genetic_Disorders_Popliteal_P

CATEGORIES ADD A LINK ADVERTISE CONTACT US ... Genetic Disorders Popliteal Pterygium Syndrome Conditions and Diseases:Genetic Disorders:Popliteal Pterygium Syndrome National Library of Medicine Includes the synonyms of multiple pterygium syndrome, a summary and the major features. nlm.nih.gov/mesh/jablonski/syndromes/sy... NORD - Popliteal Pterygium Syndrome Offers synonyms, a general discussion and further resources. stepstn.com/cgi-win/nord.exe?proc=Redir... CATEGORIES ADD A LINK ADVERTISE CONTACT US ... FORUMS

42. Medicalseek - Search Engine For The Healthcare Industry Category Pallister Killian Mosaic Syndrome Category PallisterHall Syndrome CategoryPersonal Pages Category popliteal pterygium syndrome Category Prader-Willi http://www.medicalseek.net/Conditions_and_Diseases_Genetic_Disorders.html

CATEGORIES ADD A LINK ADVERTISE CONTACT US ... Conditions and Diseases Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome Alagille Syndrome ... Dr. Greene's HouseCalls A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. drgreene.com/html/21614.html Gene Clinics Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. geneclinics.org Genetic Disorders: The Links to Diet Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy and homocystinuria and cystic fibrosis. mindspring.com/~sandysimmons/genetic_di... Genetic and Rare Conditions Site Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z. kumc.edu/gec/support/

43. EMedicine - Van Der Woude Syndrome : Article By Gregory P Conners, MD, MPH Cleft Lip and Palate. Other Problems to be Considered Commissurallip pits Orodigitofacial dysostosis popliteal pterygium syndrome. http://www.emedicine.com/ped/topic2753.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease van der Woude Syndrome Last Updated: January 22, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: VWS, cleft lip syndrome, lip pit syndrome, cleft palate, dimpled papillae of the lip AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Gregory P Conners, MD, MPH , Associate Chair of Emergency Medicine for Academic Affairs, Associate Professor of Emergency Medicine and Pediatrics, Departments of Emergency Medicine and Pediatrics, University of Rochester School of Medicine and Dentistry Gregory P Conners, MD, MPH, is a member of the following medical societies: Ambulatory Pediatric Association American Academy of Clinical Toxicology American Academy of Pediatrics Society for Academic Emergency Medicine , and Society for Medical Decision Making Editor(s): Ian Krantz, MD

44. Gene Expression In Tooth: References popliteal pterygium syndrome (PPS; OMIM 119500) is a disorder with a similar orofacialphenotype that also includes skin and genital anomalies(5). Phenotypic http://bite-it.helsinki.fi/REF297.HTM

Authors: Kondo,S., Schutte,B.C., Richardson,R.J., Bjork,B.C., Knight,A.S., Watanabe,Y., Howard,E., de Lima,R.L.L.F., Daack-Hirsch,S., Sander,A., McDonald-McGinn,D.M., Zackai,E.H., Lammer,E.J., Aylsworth,A.S., Ardinger,H.H., Lidral,A.C., Pober,B.R., Moreno,L., Arcos-Burgos,M., Valencia,C., Houdayer,C., Bahuau,M., Moretti-Ferreira,D., Richieri-Costa,A., Dixon,M.J., and, Murray,J.C. Title: Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Source: Nature Genetics Abstract: Titlepage Last edited 03.02.2003 by M.P.

45. Comunicación Nº 047 BIBLIOGRAFÍA BIBLIOGRAFÍA. Bartsocas CS; Papas CV popliteal pterygium syndrome Evidencefor a severe autosomal recessive form. J Med Genet 92226,1972. http://www.conganat.org/iicongreso/comunic/047/biblio.htm

Comunicación Nº 047 Indice SINDROME DE PTERIGION POPLITEO, TIPO LETAL. A proposito de un caso. Dr. Agustin Chong Lopez, Dr. Gershom C. Ejeckham, FRCPath, FRCP(c), Dr. Abdulrazzaq Haider TITULO INTRODUCCIÓN CASO CLÍNICO RESULTADOS ... BIBLIOGRAFÍA BIBLIOGRAFÍA Bartsocas CS; Papas CV: Popliteal pterygium syndrome: Evidence for a severe autosomal recessive form. J Med Genet 9:222-6,1972. Escobar V; Bixler D; Gleiser S; Weaaver DD; Gibss T: Multiple pterygium syndrome. Am J Dis Child 132:609-11,1978. Martínez-Frías ML; Frías JL; Fernández J: Bartsocas-Papas syndrome: Three familial cases from Spain. Am J Med Genet,39:34-7,1991. Giannotti A; Digilio MSC; Standoli L; Zama M; Dallapiccola B: New case of Bartsocas-Papas syndrome surviving at 20 months. Am J Med Genet 42:733-5,1992. Fitch N; Rochon L; Srolovitz H; Hamilton E: Vascular abnormalities in a fetus with Multiple Pterygia. Am J Med Genet 21:755-760,1985. Teebi AS; Daoud AS: Multiple pterygium syndrome: a relaatively common disorder among Arabs. Letter to the editor. J Med Genet, 27:791-2,1990. Papadia F; Nicola L: Nosological difference between the Bartsocas-Papas Syndrome and Lethal Multiple Pterygium Syndrome. Am J Med Genet 29:699-70, 1988.

46. Electricbrain Home: Index: Health: Conditions And Diseases: Genetic Disorders Syndrome Schizencephaly Smith Lemli Opitz Syndrome SmithMagenis Syndrome ShwachmanSyndrome Proteus Syndrome popliteal pterygium syndrome Pallister Killian http://www.electricbrain.com/index/Health/Conditions_and_Diseases/Genetic_Disord

electricbrain Index Health Conditions and Diseases : Genetic Disorders home index write privacy ... Noonan Syndrome Famous quotes: No Civil War picture ever made a nickel. MGM executive Irving Thalberg to Louis B. Mayer about film rights to "Gone With the Wind". Cerf/Navasky, "The Experts Speak" Find someone: Old Friends New Friends Lost Love New Love ... privacy

47. Congenital Fusion Of Maxilla And Mandible (Bony Syngnathia): A Case Report 15 such cases have been reported in the literature in combination with cleft lip,cleft of hard and soft palate, aglossia, popliteal pterygium syndrome 1 , van http://pearl.sums.ac.ir/AIM/0033/yazdi0033.html

Congenital Fusion of Maxilla and Mandible (Bony Syngnathia): A Case Report Ismail Yazdi DMD, FICD , Amir Hossein Fakhraee DMD Department of Oral and Maxillofacial Surgery, Pars Hospital, Tehran, Iran Abstract Congenital bony fusion of the jaws (syngnathia) without any other anatomic oral anomalies is a very rare condition. Numerous cases with combination of cleft palate, aglossia, and soft or bony adhesion between the maxilla and mandible have been reported. Syngnathia could also occur with popliteal pterygium syndrome and van der Woude syndrome. This report presents a case of syngnathia with bilateral maxillo-mandibular inter-alveolar adhesion, unusually with no other intra-oral anomalies. Keywords Congenital bony syngnathia congenital fusion maxilla mandible syngnathia Introduction C ongenital bony fusion of the maxilla and mandible (bony syngnathia), especially as an isolated occurrence, is a very rare condition. Syngnathia mostly appears in association with other anatomic oral and maxillofacial anomalies. About 15 such cases have been reported in the literature in combination with cleft lip, cleft of hard and soft palate, aglossia, popliteal pterygium syndrome , van der Woude syndrome, aglossia-adactylia syndrome , oral soft tissue synechiae, hypoplasia of the proximal mandible, hemifacial microsomia, cleft of mandible, bifid tongue, small or absent tongue, temporomandibular (zygomaticomandibular) fusion and some other regional and systemic anomalies.

48. MUMS List Of Disorders - P Pontospinocerebellar Degeneration (1); popliteal pterygium syndrome (3);Porencephalic Cysts (13); Porphyria Cutanea Tarda (1) *; Porphyria, Acute http://www.netnet.net/mums/mum_p.htm

Return to MUMS Home Page MUMS: List of Disorders P Number in parentheses indicates number of matches. indicates there is a support group which covers that diagnosis. PANDAS (Ped. Autoimmune Neuropsychiatric Disorders Assoc w/Strep) (1) PEHO Progressive Encephalopathy Edema Hypsarrhythmia Ocular (5) PNET Primary Neuroectodermal Tumor of the Spine (Cancerous) (2) * Pacemaker (heart/cardiac) (23) Pachydermoperiostosis (1) Pachygyria (19) Pachyonychia Congenital (1)* Palate, High (22) Pallister-Hall Syndrome (3) * Pallister-Killian Syndrome (17) ** Pancreatic, Chronic Familial (1) Pancreatitis (7) Panhypogammaglobulinemia (1) Panhypopituitarism (20) Panic-Anxiety Syndrome (1) Panniculitis (inflamed fatty connective tissue in wall of abdomen) (1) Paralyzed Diaphram (4) Paralyzed Palate using palatal obturatur (1) Paramyotonia Congenita (temorary paralysis) (1)* Paranoid Schizophrenia (2) Paraplegia (10) Parkes-Weber Syndrome (form of Klippel-Trenaunay) (1) ** Parkinson's (2) Parkinson's, Infantile (1)

49. GeneDx: DNA Diagnostic Tests epidermolytic PPK; Noonan Syndrome P -; Pachyonychia congenita,types I, II; popliteal pterygium syndrome; Pseudo-vitamin http://www.genedx.com/index.php?area=services

50. The Biotech Journal In addition, dominantnegative mutations of IRF6 lead to webbing of the skin inpopliteal pterygium syndrome (PPS), demonstrating that these syndromes are http://www.biotechjournal.com/Journal/Sep02/Res3text.htm

Back to September/October 2002 Content A Key Gene Involved in Cleft Lip and Palate Scientists have discovered the gene that causes Van der Woude syndrome (VWS), which is the most common syndromic form of cleft lip or palate, occurring in approximately 1 of every 33,000 live births. Children with the syndrome are born with any of four characteristic birth defects: pits, or small indentations, in the lower lip, cleft lip, cleft palate, and undeveloped tooth buds. The gene, called Interferon regulatory factor 6 ), seems to play a key role in the normal formation of the lips, palate, skin, and genitalia. IRF6 belongs to a family of nine transcription factors that share a highly conserved helix-turn-helix DNA-binding domain and a less conserved protein-binding domain. Most IRFs regulate the expression of interferon-alpha and -beta after viral infection, but the exact function of IRF6 is unknown. The gene encoding IRF6 is located in the critical region for VWS locus at chromosome 1q32-q41. In addition, dominant-negative mutations of IRF6 lead to webbing of the skin in popliteal pterygium syndrome (PPS), demonstrating that these syndromes are allelic. Whole-mount in situ hybridization demonstrated that transcripts were highly expressed in the medial edges of the paired palatal shelves immediately before, and during, their fusion. Similarly high

51. Scientists Identify Key Gene Involved In Cleft Lip And Palate, NIDCR Press Relea Interestingly, the group also detected changes in 13 additional familieswith a related condition called popliteal pterygium syndrome, or PPS. http://www.nidr.nih.gov/news/10012002.asp

Scientists Identify Key Gene Involved in Cleft Lip and Palate http://www.nidcr.nih.gov/news/inside_scoop_cleft_lip_palate.asp Scientists report in this month's Nature Genetics they have discovered the gene that causes Van der Woude syndrome, the most common of the syndromic forms of cleft lip and palate. The term "syndromic" means babies are born with cleft lip and palate, in addition to other birth defects. According to the scientists, the discovery could very possibly direct them to genes involved in "non-syndromic" cleft lip and palate, one of the most common birth defects in the world. Among Caucasians, non-syndromic cleft lip and palate occurs in an estimated 1 in every 1,000 live births, and the frequency seems to be even higher in some Asian countries, such as China and The Philippines. "Since there is so much clinical overlap between the two, we expect that similar genes and maybe even the same genes will be involved in the non-syndromic form," said Jeff Murray, M.D., a scientist at the University of Iowa and an author on the paper. Murray noted that the gene, called IRF6, seems to play a key role in the normal formation of the lips, palate, skin, and genitalia. He said further study of the gene should provide precise molecular clues into normal human development and suggest specific biological strategies to prevent birth defects, such as cleft lip and palate.

52. Corps Translate this page que très suggestifs du syndrome, peuvent également se retrouver dans les syndromesfacio-génito-popliteal (popliteal pterygium syndrome) et orofaciodigital 1 http://orphanet.infobiogen.fr/data/patho/vanderwo.html

53. Health Library Polysymptomatic Nocturnal EnuresisBed-Wetting (Primary Nocturnal Enuresis). PompeDisease. popliteal pterygium syndrome. Porphyria. Porphyria Cutanea Tarda. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/_SearchResults.

54. Yayýnlar Ogün TC, Tosun Z, Arazi M. Kapicioglu MIS. A case of a new syndrome or a variantof the rare popliteal pterygium syndrome popliteal pterygium syndrome. http://www.drsadik.8m.com/yayinlar.html

Free Web site hosting - Freeservers.com Yayýnlar DERS NOTU Savacý N, Yenidünya MO, Tosun Z, Hoþnuter M. Plastik Cerrahi 1995 / KONYA YURT DIÞI YAYINLAR Savaci N, Yenidünya MO, Gökalp A, Tosun Z. Murray-Puretic Syndrome. A report of two cases. Eur. J Plast Surg 21: 408-410, 1998 Savaci N., Hoþnuter M., Tosun Z. Use of reverse triangular V-Y Flaps to create a Web Space in syndactyly. Ann Plast Surg. 42(5): 540-544, 1999 Savaci N, Avunduk MC, Tosun Z. Hosnuter M. Hyperphosphatemic Tumoral Calcinosis. Plast Reconstr Surg. 105 (1); 162-165, 2000. Hoþnuter M., Tosun Z., Savaci N. A non animal model for microsurgical training with adventitial stripping. Plast Reconstr Surg. 106: 958-959 2000. Tosun Z, Hoþnuter M, Savaci N. Reconstruction of Defects of the Dorsum of the nose with Bilateral Transposition Flaps. Scand J Plast Surg. 34(4): 387-390, 2000 Savaci N, Tosun Z., Hoþnuter M. Ear Lobe Reconstruction with a Posterior Ear Flap. Scand J Plast Surg. 34:173-175, 2000. Savaci N, Tosun Z, Hoþnuter M. A Simple Method of Breast Implant Placement by a Drainage Tube. Aesth Plast Surg.

55. A Listing Of Disorders Polymyositis. Polyposis, Familial. Pompe Disease. popliteal pterygium syndrome.Porphyria. Porphyria Cutanea Tarda. Porphyria, Acute Intermittent. Porphyria, ALAD. http://medschool.umaryland.edu/BTBank/Family/Disorders_P.htm

Brain and Tissue Bank University of Maryland, Baltimore P Pachydermoperiostosis Paget's Disease Paget's Disease of the Breast Pallister Hall Syndrome Pallister Killian Mosaic Syndrome Pallister W Syndrome Papillitis Papillon Lefevre Syndrome Paracoccidioidomycosis Paramyotonia Congenita Paraplegia, Hereditary Spastic Parkinson's Disease Parkinson's Disease, Idiopathic Parry Romberg Syndrome Pars Planitis Parsonage Turner Syndrome Patulous Eustachian Tube Peeling Skin Syndrome Pelizaeus Merzbacher Brain Sclerosis Pemphigoid, Benign Mucosal Pemphigus Penta X Syndrome Pentalogy of Cantrell PEPCK Deficiency, Mitochondrial Perisylvian Syndrome, Congenital Bilateral Perniosis Peroxisomal Disorder Peutz Jeghers Syndrome Peyronie Disease Pfeiffer Syndrome Type I Phenylketonuria Pheochromocytoma Phocomelia Syndrome Phosphoglycerate Kinase Deficiency Pick's Disease Pierre Robin Syndrome Pinta Pityriasis Rubra Pilaris Pneumonia, Eosinophilic Pneumonia, Interstitial POEMS Syndrome Poland Syndrome Polyarteritis Nodosa Polychondritis Polycystic Kidney Diseases Polycystic Liver Disease Polycythemia Vera Polyglucosan Body Disease, Adult

56. Health Library Polymyositis. Pompe Disease. popliteal pterygium syndrome. Porphyria.Porphyria Cutanea Tarda. Porphyria, Acute Intermittent. Porphyria, ALAD. http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/_SearchResul

57. Open Directory & Pay Per Click Search Engine: Health/Conditions And Diseases/Gen PallisterHall Syndrome (6). Personal Pages (11). popliteal pterygium syndrome(2). Prader-Willi Syndrome (12). Propionic Acidemia (4). Proteus Syndrome (4). http://www.searchpixie.com/Health/Conditions_and_Diseases/Genetic_Disorders/

Need Traffic TrafficGiveAway.com Search the Web Home Toolbar LinkManager bookmark ... Conditions and Diseases : Genetic Disorders CATEGORIES: Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome Alagille Syndrome ... Zellweger Syndrome LINKS: Dr. Greene's HouseCalls A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. http://www.drgreene.com/html/21614.html Gene Clinics Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. http://www.geneclinics.org Genetic and Rare Conditions Site Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z. http://www.kumc.edu/gec/support/ Genetic Disorders: The Links to Diet Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy and homocystinuria and cystic fibrosis. http://www.mindspring.com/~sandysimmons/genetic_disorders.html

58. Error Page DISEASE Bartsocas papas syndrome, Synonym(s) popliteal pterygium syndrome lethaltype, CIM Q87.2, MIM 263650, Sign(s) of the disease (22), Outpatient clinic(s). http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1234

59. ORPHANET® : Base De Données Sur Les Maladies Rares Et Les Médicaments Orpheli of corpus callosum Polysyndactyly type 4 Polysyndactyly type haas Pompe diseasePoncetspiegler's cylindroma popliteal pterygium syndrome Popliteal pterygium http://www.orpha.net/Pat/GBP.html

List of diseases starting by P Pachydermoperiostosis Pachygyria joint contractures facial abnormalities Pachygyria mental retardation epilepsy Pachyonychia congenita ... 'Prune belly' syndrome List of diseases starting by P Pseudoachondroplasia Pseudoachondroplastic dysplasia Pseudoachondroplastic dysplasia 1 Pseudoadrenoleukodystrophy ... Pyruvate kinase deficiency

60. Craniofacial Center Collaboratory (Van Der Woude Syndrome) is called IRF6, ( Interferon Regulatory Factor 6 ). Mutations in the IRF6 gene causeVWS and a related condition called the popliteal pterygium syndrome (PPS). 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?

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 3     41-60 of 97    Back | 1  | 2  | 3  | 4  | 5  | Next 20