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         Popliteal Pterygium Syndrome:     more detail
  1. Anomalies And Curiosities Of Medicine- George M. Gould, A.M., M.D. by A.M., M.D. George M. Gould, 2010-02-17

61. 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
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.
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62. 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

63. 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
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Original Report
MR Imaging of Popliteal Pterygium Syndrome in Pediatric Patients
Lane F. Donnelly Kathleen H. Emery and Twee T. Do Department of Radiology, Children's Hospital Medical Center, 3333 Burnet Ave. Cincinnati, OH 45229-3039.
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

64. 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
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.
Case Report:
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.

65. 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/
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]

66. 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
Main Page See live article Alphabetical index
List of rare diseases starting with P
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

67. Érudit | MS V19 N4 2003 : Gilgenkrantz : Fentes Et Brides: Une Même éti
popliteal pterygium syndrome. J Med Genet 1990; 27 320-6.
http://www.erudit.org/revue/ms/2003/v19/n4/006483ar.html
Le navigateur que vous utilisez est d'une ancienne version (ou bien la prise en charge des feuilles de styles CSS est d©sactiv©e). La mise en page de l'article ne peut ªtre enti¨rement reproduite avec cette version. M©decine/Sciences Volume 19, num©ro 4, Avril 2003 Directeurs : Michel Bergeron et Jean-Claude Dufour R©dacteurs en chef : G©rard Friedlander et Daniel G. Bichet ‰diteurs : La Soci©t© de la revue m©decine/sciences (Montr©al) et EDK : ‰ditions m©dicales et scientifiques (Paris) ISSN : 0767-0974 (imprim©)
Fentes et brides: une mªme ©tiologie pour deux syndromes a priori bien diff©rents
Auteur Simone Gilgenkrantz 9, rue Basse, 54330 Clerey-sur-Brenon, France. s.gilgenkrantz@chu-nancy.fr Les g¨nes IRF interferon regulatory factor ), au nombre de 9, codent pour une famille de facteurs de transcription qui contr´lent l’expression de l’interf©ron apr¨s une infection virale. Mais il est probable qu’ils interviennent aussi dans bien d’autres domaines, en particulier dans le contr´le du d©veloppement embryonnaire, comme en atteste la r©cente implication d’ dans deux maladies   transmission autosomique dominante: le syndrome de van der Woude et le syndrome du pterygium poplit© [1].

68. 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

69. 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
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Iowa City, IA 52242-1101 USA phone: 800-553-4692 ext. 9968
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@uiowa.edu Webmaster Brian Schutte Ph.D. Assistant Professor
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

70. OMIM - POPLITEAL PTERYGIUM SYNDROME; PPS

http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?cmd=framedSynopsis&id=119500

71. 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

72. 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

73. 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)

74. Human Protein: O14896 - Interferon Regulatory Factor 6 (IRF-6). EMBL Bioinformat
Van der Woude and popliteal pterygium syndrome are allelic disorders. DISEASE, Defectsin IRF6 are the cause of popliteal pterygium syndrome (PPS) MIM119500.
http://harvester.embl.de/harvester/O148/O14896.htm
Human protein: O14896 - Interferon regulatory factor 6 (IRF-6). EMBL
FORUM Length: 467 aa , molecular weight: 53129 Da , CRC64 checksum: MALHPRRVRL KPWLVAQVDS GLYPGLIWLH RDSKRFQIPW KHATRHSPQQ EEENTIFKAW 60 AVETGKYQEG VDDPDPAKWK AQLRCALNKS REFNLMYDGT KEVPMNPVKI YQVCDIPQPQ 120 GSIINPGSTG SAPWDEKDND VDEEDEEDEL DQSQHHVPIQ DTFPFLNING SPMAPASVGN 180 CSVGNCSPEA VWPKTEPLEM EVPQAPIQPF YSSPELWISS LPMTDLDIKF QYRGKEYGQT 240 MTVSNPQGCR LFYGDLGPMP DQEELFGPVS LEQVKFPGPE HITNEKQKLF TSKLLDVMDR 300 GLILEVSGHA IYAIRLCQCK VYWSGPCAPS LVAPNLIERQ KKVKLFCLET FLSDLIAHQK 360 GQIEKQPPFE IYLCFGEEWP DGKPLERKLI LVQVIPVVAR MIYEMFSGDF TRSFDSGSVR 420 LQISTPDIKD NIVAQLKQLY RILQTQESWQ PMQPTPSMQL PPALPPQ 467 //
UniProt
ensEMBL Entrez RZPD ... EBI-Hinxton-"Uniprot-Swissprot-TrEMBL" database General information Entry name Accession number Created Rel. 36, 15-JUL-1998 Sequence update Rel. 36, 15-JUL-1998 Annotation update Rel. 42, 10-OCT-2003 Description and origin of the Protein Description Interferon regulatory factor 6 (IRF-6).

75. Conditions And Diseases: Genetic Disorders: Popliteal Pterygium Syndrome
Health and Home. popliteal pterygium syndrome. 20Pterygium%20Syndrome%20.popliteal pterygium syndrome. Last Update Mon May 10 2004.
http://www.health-home.net/Conditions_and_Diseases/Genetic_Disorders/Popliteal_P
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Popliteal Pterygium Syndrome
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76. 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

77. Gimenei >> Health >> Conditions_and_Diseases >> Genetic_Disorders
Phenylketonuria; Polycystic Kidney; popliteal pterygium syndrome; Porphyrias;PraderWilli Syndrome; Progeria; Propionic Acidemia; Proteus Syndrome;
http://www.gimenei.com/directory/top/Health/Conditions_and_Diseases/Genetic_Diso
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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.
Book: Management of Genetic Syndromes - "...a detailed practical guide for management of patients with genetic conditions...an asset to the bookshelf of any healthcare provider...also an excellent educational text..." (Journal of Genetic Counseling, Vol. 12, No. 4, August 2003)
Book: Mind, Stress, and Emotions: The New Science of Mood
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.
Cystic Fibrosis Book Store At WellnessBooks.com

78. 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.

79. 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
Medword Resources
P
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.
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80. Pterygium
pterygium. popliteal pterygium syndrome. pterygium syndrome. popliteal pterygium.pterygium treatment. multiple pterygium syndrome. nausea Pterygium.
http://www.icongrouponline.com/health/Pterygium.html
ICON Health Publications
Official Health Sourcebooks The Official Patient's Sourcebook
on
PTERYGIUM

(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

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