NodeWorks - Genetic Disorders: Popliteal Pterygium Syndrome popliteal pterygium syndrome is an extremely rare inherited disorderthat is apparent at birth (congenital). in entire NodeWorks http://dir.nodeworks.com/Health/Conditions_and_Diseases/Genetic_Disorders/Poplit
Extractions: in entire NodeWorks Directory in Health in Genetic Disorders in ++ Popliteal Pterygium Syndrome Top Health Genetic Disorders Popliteal Pterygium Syndrome Popliteal Pterygium Syndrome is an extremely rare inherited disorder that is apparent at birth (congenital). National Library of Medicine: Multiple Pterygium Syndrome Includes the synonyms, a summary and the major features. NORD: Popliteal Pterygium Syndrome Offers synonyms, a general discussion and further resources.
UK Shopping Directory - UK Shops - Pterygium popliteal pterygium syndrome (PPS; OMIM 119500) is a disorder with a a poplitealweb; the antecubital pterygium syndrome in which there is a http://www.ishop.co.uk/site-map/next.php?keyword=pterygium&page=5
AJR -- Abstracts: Donnelly Et Al. 178 (5): 1281 Original Report. MR Imaging of popliteal pterygium syndrome in PediatricPatients. Lane F. Donnelly 1 , Kathleen H. Emery 1 and Twee T. Do 2 http://www.ajronline.org/cgi/content/abstract/178/5/1281
Extractions: Division of Orthopedic Surgery, Children's Hospital Medical Center, Cincinnati, OH 45229-3039. OBJECTIVE. Our purpose was to describe the use of MR imaging in the evaluation of the positions of the popliteal artery and peroneal nerve in children with popliteal pterygium syndrome for preoperative planning and to describe the typical appearance of popliteal pterygium on MR imaging. CONCLUSION. By depicting the popliteal artery and peroneal nerve either in normal positions or abnormally located immediately adjacent to the pterygium, MR imaging provides useful information for
Program Nr 671 Bartsocas and Papas (1972) reported 4 sibs in a consanguineous Greek family witha recessive form of the popliteal pterygium syndrome(MIM 119500).The clinical http://www.faseb.org/genetics/ashg00/f671.htm
Extractions: Program Nr: 671 Bartsocas-Papas Syndrome (MIM 263650) in a West African family: Prenatal diagnosis and further delineation. D. Staffenberg , A. Shanske , B. Russell , O. Rosen 1) Center for Craniofacial Disorders, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY; 2) Bronx Lebanon Hospital, Bronx, NY. Bartsocas and Papas (1972) reported 4 sibs in a consanguineous Greek family with a recessive form of the popliteal pterygium syndrome(MIM 119500).The clinical findings include LBW,ankyloblepharon,cleft lip/palate,filiform bands between the jaws, popliteal pterygium, syndactyly,and nonectodermal anomalies including microcephaly and genital abnormalities.Early lethality is a common feature.We report a case of a Gambian infant with this disorder. All but one of the reported cases(10 males and 8 females)have been from the Mediterranean region.Syngnathia is a rare anomaly involving soft tissue or bony adhesions between the maxilla and the mandible.Only about 60 cases have been reported mostly in association with the popliteal pterygium syndrome and involving soft tissue only.Our patient is the first from Africa,the only case with bony syngnathia,and the first case indicating the practicality of prenatal diagnosis of this disorder.
Wide Smiles Gallery: Daniel Alexander Daniel also has popliteal pterygium syndrome*. Daniel s pictures are presentedto you by his parents, Tracie Ken. 5 weeks old. Daniel before lip repair. http://www.widesmiles.org/gallery/daniel_a/
Extractions: Daniel Alexander Daniel was born on March 31, 2000 with a bilateral cleft lip (complete cleft lip on the left; incomplete on the right) and palate. Daniel also has popliteal pterygium syndrome* 5 weeks old. Daniel before lip repair. Daniel after lip repair surgery. (3-1/2 months old) Daniel's family includes mom (Tracie), Dad (Ken) and big sister Emily. This picture was taken right after Daniel's birth. *Here are the details in a nutshell: Popliteal Pterygium Syndrome is an autosomal dominant genetic disorder occurring in approximately 1 out of every 300,000 births. It is extremely rare. The most common birth defects associated with this syndrome are: (please forgive me if these don't make a whole lot of sense, I'm translating medical terminology and am not sure how good I'm doing) Cleft lip and palate, salivary lip pits in the lower lip (Daniel did have these too, they were removed at the time his lip was repaired) Intraoral tissue bands - bands of skin which inhibit full opening of the mouth (Daniel had these, they resolved themselves a few days after birth when he opened his mouth for one LUSTY cry) Fused digits (fingers or toes - Daniel's small toes are all fused together) Digital Reduction Defects [missing fingers/toes or fingers or toes that are in place but completely dysfunctional - Daniel's big toes on both feet are dysfunctional, and one - or both, (I'm shooting for just one because I think his right toe will be OK) will need to be removed]
List Of Rare Diseases Starting With P PoncetSpiegler s cylindroma; Pontoneocerebellar Hypoplasia; Poplitealpterygium syndrome lethal type; popliteal pterygium syndrome; http://www.fact-index.com/l/li/list_of_rare_diseases_starting_with_p.html
Extractions: Main Page See live article Alphabetical index This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/asp/diseases/diseases.asp A B C ... O P Q R S T ... Z Pachydermoperiostosis Pachygyria Pachyonychia congenita Jackson Lawler type Pacman syndrome Paes Whelan Modi syndrome Paget disease extramammary Paget disease juvenile type Paget's disease of the breast Paget's disease, type 1 Pagon Bird Detter syndrome Pagon Stephan syndrome Pai Levkoff syndrome Palant cleft palate syndrome Palindromic rheumatism Pallister-Hall syndrome Pallister-Killian syndrome Palmer Pagon syndrome Palmitoyl-protein thioesterase deficiency Palmoplantar Keratoderma Palmoplantar porokeratosis of Mantoux Palsy cerebral Pancreas agenesis Pancreatic adenoma Pancreatic beta cell agenesis with neonatal diabetes mellitus Pancreatic cancer Pancreatic carcinoma, familial Pancreatic diseases Pancreatic islet cell neoplasm Pancreatic islet cell tumors Pancreatic lipomatosis duodenal stenosis Pancreatitis, hereditary
Wuup.de - /Health/Conditions_and_Diseases/Genetic_Disorders Translate this page popliteal pterygium syndrome. Siehe auch Links. » NORD Popliteal PterygiumSyndrome - Offers synonyms, a general discussion and further resources. http://wuup.de/index.php/Health/Conditions_and_Diseases/Genetic_Disorders/Poplit
GeneticsPhdDepartment Factor 6 (IRF6) cause two related orofacial clefting disorders, Van der Woude syndrome(VWS; OMIM119300) and popliteal pterygium syndrome (PPS; OMIM119500). http://www.uiowa.edu/~genetics/GeneticsFSchutte.htm
Extractions: Pediatrics Representative Publications: Kantaputra, PN, Y Sumitsawan, BC Schutte, C Tochareontanaphol, (2002) Van der Woude syndrome with sensorineural hearing loss, large craniofacial sinuses, dental pulp stones, and minor limb anomalies: report of a four-generation Thai family. Am J Med Genet 108: 275-280. Schutte, BC, JP Mitros, JA Bartlett, JD Walters, HP Jia, MJ Welsh, TL Casavant, PB McCray, Jr., (2002) Discovery of five conserved beta -defensin gene clusters using a computational search strategy. Proc Natl Acad Sci U S A 99: 2129-2133. *Kondo, S *BC Schutte, RJ Richardson, BC Bjork, AS Knight, Y Watanabe, E Howard, RL Ferreira De Lima, S Daack-Hirsch, A Sander, DM McDonald-McGinn, EH Zackai, EJ Lammer, AS Aylsworth, HH Ardinger, AC Lidral, BR Pober, L Moreno, M Arcos-Burgos, C Valencia, C Houdayer, M Bahuau, D Moretti-Ferreira, A Richieri-Costa, MJ Dixon, JC Murray (2002) Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat. Genet. 32: 285-28. Molecular genetics of mammalian development
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
Extractions: 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.
CCDD: Family: References: Links: Syndromes University of Iowa Craniofacial Center Collaboratory, The gene for VWS (Van derWould Syndrome) and popliteal pterygium syndrome has recently been identified. http://www.hopkinsmedicine.org/craniofacial/References/LinkList.cfm?Category=Fam
Extractions: Gimenei Health Conditions and Diseases Genetic Disorders Book: The Metabolic and Molecular Bases of Inherited Disease, 4 volume set - This is a suitably vast book for a vast subject. It covers every aspect of the application of human genetics to medicine, and the reviews are not only an ideal introduction to a genetic disease, but are heavily referenced as well. This makes it ideal as a guide to the most recent literature on the subject. The introductory chapters are essential reading as well. Video: Bipolar Disorder/Manic Depression - Finally, a film that depicts the reality of living with adult ADD. Sensitively written and produced, "Outside In" shows the life and times of real people living with this real "disorder". As a clinician working with adults with attention deficit, this is a "must have" for all who are touched by ADD.
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
Extractions: 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 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.
NORD Rare Disease - Medical Transcription At Medword Vera Polyglucosan Body Disease, Adult Polymyalgia Rheumatica Polymyositis Polyposis,Familial Pompe Disease popliteal pterygium syndrome Porphyria Porphyria http://www.medword.com/rardisP.html
Extractions: This listing of rare diseases is provided for spelling reference. Clicking on the link will generate a new window and take you to NORD's home page, where you may search for an abstract of the disease or order a full text report of the disease. Please read the notice at the bottom of this page before using this list. Please use the above list at your own risk. While we make every effort to ensure accuracy, we cannot be held responsible for errors in spelling or capitalization, or any circumstance that may result because of said error. In using the above list you also agree to never hold ANSO Consulting Inc. or Medword Medical Transcription responsible for any errors should they exist. Please Note:
Extractions: (central pterygium; double pterygium; progressive peripheral pterygium; recurrent pterygium; stationary peripheral pterygium) Revised and Updated for the Internet Age P A P E R B A C K Paperback Book Paperback Book Order by phone: 800-843-2665 (within USA) 1-201-272-3651 (from outside USA) Paperback Book Shipped in 3 to 5 business days E B O O K Electronic File * E-Book version sent via e-mail in 2 business days Electronic File *E-Book version sent via e-mail in 2 business days Pages Price $24.95(USD) ISBN Published Synopsis A comprehensive manual for anyone interested in self-directed research on pterygium. Fully referenced with ample Internet listings and glossary. Related Conditions/Synonyms central pterygium; double pterygium; progressive peripheral pterygium; recurrent pterygium; stationary peripheral pterygium Description Table of Contents Introduction Overview Organization Scope Moving Forward PART I: THE ESSENTIALS Chapter 1. The Essentials on Pterygium: Guidelines
