41. Annals Of Plastic Surgery - UserLogin An infant with typical popliteal pterygium syndrome had intraoral fibrous bands popliteal pterygium syndrome (or facial genitopopliteal syndrome) is http://www.annalsplasticsurgery.com/pt/re/annps/fulltext.00000637-200211000-0001

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42. Annals Of Plastic Surgery - Abstract: Volume 49(5) November 2002 P 550-552 Endos An infant with typical popliteal pterygium syndrome had intraoral fibrous bandsbinding the maxillary and mandibular alveolar ridges. http://www.annalsplasticsurgery.com/pt/re/annps/abstract.00000637-200211000-0001

LWWOnline LOGIN eALERTS REGISTER ... Archive Endoscopic Release of Intraoral... ARTICLE LINKS: Fulltext PDF (354 K) Permissions Endoscopic Release of Intraoral Synechiae in Popliteal Pterygium Syndrome. Annals of Plastic Surgery. 49(5):550-552, November 2002. Schonauer, Fabrizio MD *; La Rusca, Ivan MD *; Sordino, Desiree MD +; Settimi, Alessandro MD +; Molea, Guido MD * Abstract: An infant with typical popliteal pterygium syndrome had intraoral fibrous bands binding the maxillary and mandibular alveolar ridges. This resulted in dramatically restricted mouth opening. These bands were divided surgically with endoscopic assistance. Subscribe to RSS feed utrdc-pt01 Release 4.0

43. Journal Of Pediatric Orthopaedics B - UserLogin popliteal pterygium syndrome implications for orthopaedic management popliteal pterygium syndrome (PPS) is a rare genetic disorder that represents the http://www.jpo-b.com/pt/re/jpedorthob/fulltext.01202412-200405000-00010.htm

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44. Indian Pediatrics - Editorial popliteal pterygium syndrome Evidence for a severe autosomal recessive form.J Med Genet 1972; 9 222226. 2. Martinez-Frias ML, Frias JL, Vazquez I, http://www.indianpediatrics.net/july2004/july-725-727.htm

Home Past Issue About IP About IAP ... Subscription Case Reports Indian Pediatrics 2004;41:725-727 Bartsocas-Papas Syndrome in a Pakistani Family from Kuwait Rima MZ Al-Sawan Amrit L. Soni Enaam M. Al-Nakkas Raj Kumar Gang* From the Department of Pediatrics, Farwaniya Hospital and *Department of Plastic Surgery, Al-Babtain Hospital, Kuwait. Correspondence to: Dr. A L Soni, P O Box # 2532, Ardiya 924 00, Kuwait. E-mail: amritsony@hotmail.com Manuscript received: June 25, 2003; Initial review completed: August 6, 2003; Revision accepted: December 11, 2003. Abstract: We report a rare case of Bartsocas Papas Syndrome, a lethal autosomal recessive type of Popliteal Pterigium syndrome, from a consaguineous Pakistani family who had typical anomalies of face, limbs and genitalia with additional peripheral pulmonary stenosis. Antenatal diagnosis and option for termination of pregnancy is advised. Keywords: ankyloblepharon, Facial cleft, Popliteal Pterigium

45. Indian Pediatrics - Editorial This syndrome must be differentiated from the popliteal pterygium syndrome, whichis autosomal dominant with contractures limited to the knee and http://www.indianpediatrics.net/feb2001/feb-194-197.htm

Home Past Issue About IP About IAP ... Subscription Case Reports Indian Pediatrics 2001; 38: 194-1 Chromosomes 6/7 Translocation t(6:7)(q15;32) Presenting as Multiple Pterygium Syndrome Madhuri V. Bose A.* Danda S.** Shivakumar S.*** Kirubakaran C.**** Seshadari M.S.** From the Departments of Orthopedics, Community Health*, Endocrinology**, Hematology*** and Child Health****, Christian Medical College and Hospital, Vellore 632 004, South India. Correspondence to: Dr. V. Madhuri, Professor, Department of Orthopedics Unit II, Christian Medical College and Hospital, Vellore 632 004, South India. E-Mail madhuriwalter@cmcvellore.ac.in Manuscript received: June 6, 2000; Initial review completed: June 29, 2000; Revision accepted: August 7, 2000 Multiple pterygium (Escobar) syndrome is a rare, autosomal recessive inherited disorder manifested by growth retardation, facial and genital anomalies, and widespread musculo-skeletal deformities. Pterygia-cutaneous webbing usually associated with joint contractures are – the predominant feature of the syndrome(12). In the indexed Indian literature there is only one case report from Turkey of multiple pterygium syndrome in a female child with bilateral optic atrophy(3). In this report we present the clinical, radiographic and laboratory data of a female child morphologically similar to multiple pterygium syndrome with previously unreported features.

46. GeneDx :: Genetic Testing And Diagnosis Company Van der Woude Syndrome, popliteal pterygium syndrome. Popliteal PterygiumSyndrome. IRF6 (Interferon regulatory factor 6) http://www.genedx.com/services/dis_vws.php

207 Perry Parkway Gaithersburg, MD 20877 Phone: 301-519-2100 Fax: 301-519-2892 Search Our Site What We Do Who We Are The Principals Contact Us ... Buccal Swab Kits / Order Van der Woude Syndrome Popliteal Pterygium Syndrome IRF6 (Interferon regulatory factor 6) Using genomic DNA obtained from buccal (cheek) swabs or blood, the coding region (exons 3-9) of the IRF6 gene is screened by bi-directional sequence analysis. Fifty percent of individuals with Van der Woude syndrome and 85% of individuals with PPS show mutations in the IRF6 gene (Kondo et al., 2002). Our method is expected to detect the vast majority of mutations when present, although we will not detect those rare cases with whole-gene deletions. Information Sheet Consent Document Sample Submission Form (Test Requisition Form) Payment Options Form vanderwoude, lip pit, cleft lip, cleft palate, CL/CP, mucous cyst, faciogenitalpopliteal , hypodontia, syndactyly, popliteal web, IRF6, PPS, cleft uvula Design by C-T

47. Clinical Dysmorphology - UserLogin Gorlin type popliteal pterygium syndrome is an autosomal dominant Poplitealpterygium syndrome evidence for a severe autosomal recessive form. http://www.clindysmorphol.com/pt/re/mcd/fulltext.00019605-200107000-00011.htm

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48. Congenital Lower Lip Pits: A Case Report Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet.2002 Oct;32(2)2859. Epub 2002 Sep 03. PubMed 6. Janku P, Robinow M, http://dermatology.cdlib.org/102/case_reports/lip/souissi.html

DOJ Contents Congenital lower lip pits: A case report A Souissi, D El Euch, M Mokni, T Badri, and A Ben Osman Dhahri Dermatology Online Journal 10 (2): 10 Dermatology Unit, la Rabta hospital, Tunis. amel_souissi@yahoo.fr Abstract The Van der Woude syndrome is a rare autosomal-dominant condition typically comprising cleft lip or cleft palate and distinctive pits of the lower lips. The degree to which individuals carrying the gene are affected varies widely, even within families. The variable manifestations include lip pits alone, absent teeth, and isolated cleft lip and palate of varying degrees of severity. Other associated anomalies have also been described. We report a case of Van der Woud syndrome manifesting with isolated lower lip pits in an adolescent female with similarly affected family members. Introduction The occurrence of lip pits is autosomal dominant trait associated with developmental defects involving the paramedial portion of the vermilion of the lip. It is one of the more frequently occurring congenital malformations of the lower lip. Gurney (1940) reports four cases of lip pits in one family; Fogh-Andersen (1943) reports eleven cases of lip pits in three family groups; and Test and Falls (1947) reports lip pits in five generations of the same family [ ]. Van der Woude (1954) found, after careful study of five pedigrees, that the combination of pits of the lower lip with cleft lip and palate is based on a single dominant gene; he recognized a syndrome that has since been known as the Van der Woude syndrome (VWS) [

49. UniProtKB/Swiss-Prot Entry O14896 [IRF6_HUMAN] Interferon Regulatory Factor 6 Van der Woude and popliteal pterygium syndrome are allelic disorders. DISEASEDefects in IRF6 are the cause of popliteal pterygium syndrome (PPS) http://www.expasy.org/uniprot/O14896

ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot Search Swiss-Prot/TrEMBL Swiss-Prot/TrEMBL (full text) PROSITE SWISS-2DPAGE ENZYME NEWT Taxonomy HAMAP families ExPASy web site for The ExPASy Server requires Javascript to be fully functional. You may not see all the information available for this page (More information) UniProtKB/Swiss-Prot entry Entry info Name and origin References Comments ... Tools Note: most headings are clickable, even if they don't appear as links. They link to the user manual or other documents Entry information Entry name Primary accession number Secondary accession numbers None Entered in Swiss-Prot in Release 36, July 1998 Sequence was last modified in Release 36, July 1998 Annotations were last modified in Release 48, September 2005 Name and origin of the protein Protein name Interferon regulatory factor 6 Synonym IRF-6 Gene name Name: From Homo sapiens (Human) TaxID Taxonomy ... References NUCLEOTIDE SEQUENCE [MRNA]. Grossman A. Mittrucker H.W. Antonio L. Ozato K. ... Mak T.W. Submitted (SEP-1997) to the EMBL/GenBank/DDBJ databases. NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

50. List Of Diseases Starting With P: Information From Answers.com Pompe s disease; PoncetSpiegler s cylindroma; Pontoneocerebellar Hypoplasia;popliteal pterygium syndrome lethal type; popliteal pterygium syndrome http://www.answers.com/topic/list-of-diseases-starting-with-p

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Wikipedia Or search: - The Web - Images - News - Blogs - Shopping List of diseases starting with P Wikipedia List of diseases starting with P A list of diseases in the English wikipedia. A B C D ... O P Q R S T ... Z Pa Pac-Pal Pachydermoperiostosis Pachygyria Pachyonychia congenita Jackson Lawler type Pacman syndrome Paes Whelan Modi syndrome Paget disease extramammary Paget disease juvenile type Paget's disease of bone 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 Pan 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

51. Pterygium Information - Popliteal Pterygium Syndrome, Pterygium Surgery Pterygium Information popliteal pterygium syndrome, pterygium surgery. http://www.cosmeticsdiary.com/pterygium.htm

Pterygium Information Home Nail Disorders Pterygium Pterygium Information - popliteal pterygium syndrome, pterygium surgery What is Pterygium Pterygium may be inherited as an autosomal dominant trait or it may be associated with other syndromes. Pterygium is the inward advance of skin over the nail plate, usually the result of trauma to the matrix due to a surgical procedure or by a deep cut to the nail plate. Pterygium results in the loss of the nail plate due to the development of scar tissue. Cortisone is used to prevent the advancement of scar tissue. Never attempt to remove pterygium -instead, consult a physician for advice and treatment. Pterygia can vary from small, atrophic quiescent lesions to large, aggressive, rapidly growing fibrovascular lesions that can distort the corneal topography, and, in advanced cases, they can obscure the optical center of the cornea. Causes of Pterygium Pterygium condition is usually self limiting. Here are some causes of Infected Pterygium: trauma illness malnutrition illness cheilosis glossitis chemotherapy malnutrition iron deficiency Treatment of Pterygium by surgery Pterygium should be treated as soon as they are recognized. Since the Pterygium is associated with iron deficiency it is important to take care of your nutrition to fight not only against spoon nails but also with the fatigue, mood changes and decreased cognitive proper function of this condition. Patients with pterygia can be observed unless the lesions exhibit growth toward the center of the cornea or the patient exhibits symptoms of significant redness, discomfort, or alterations in visual function. Pterygia can be removed for cosmetic reasons, as well as for functional abnormalities of vision or discomfort. Pterygium is usually caused through iron deficiency anemia. these nails show raised ridges and are thin and concave.

52. Detail Results - Institut Of Odontology - Karolinska Institutet - Annual Publica popliteal pterygium syndrome in a Swedish familyclinical findings and geneticanalysis with the van der Woude syndrome locus at 1q32q41. http://fou.ofa.ki.se/annual/eng/detail_eng.asp?Id=203

53. Plastic And Reconstructive Surgery - UserLogin Hunter, A. The popliteal pterygium syndrome Report of a new family and reviewof the literature. Am. J. Med. Genet. 36 196, 1990. http://www.plasreconsurg.com/pt/re/prs/fulltext.00006534-200504010-00042.htm

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54. Plastic And Reconstructive Surgery - UserLogin Barutcu et al.2 reported a popliteal pterygium syndrome with cleft lip and palate popliteal pterygium syndrome implications for orthopaedic management. http://www.plasreconsurg.com/pt/re/prs/fulltext.00006534-199707000-00016.htm

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55. Six Families With Van Der Woude And/or Popliteal Pterygium Syndrome: All With A Keywords cleft lip; cleft palate; craniofacial; genetic; syndactyly. AbbreviationsPPS, popliteal pterygium syndrome; VWS, Van der Woude syndrome http://jmg.bmjjournals.com/cgi/content/extract/41/2/e15

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Full Text Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Vikkula, M Related Collections Online mutation reports Genetics Journal of Medical Genetics ONLINE MUTATION REPORT Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the gene N Revencu B Bayet Y Gillerot R Vanwijck C Verellen-Dumoulin and M Vikkula Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Universite catholique de Louvain, Avenue Hippocrate 74+4, Brussels, Belgium Centre Labiopalatin, Division of Plastic Surgery, Cliniques universitaires St Luc, Brussels, Belgium

56. Six Families With Van Der Woude And/or Popliteal Pterygium Syndrome: All With A Abbreviations PPS, popliteal pterygium syndrome; VWS, Van der Woude syndrome Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. http://jmg.bmjjournals.com/cgi/content/full/41/2/e15

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Extract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Vikkula, M Related Collections Online mutation reports Genetics Journal of Medical Genetics BMJ Publishing Group Ltd ONLINE MUTATION REPORT Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the gene N Revencu B Bayet Y Gillerot R Vanwijck C Verellen-Dumoulin and M Vikkula Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Universite catholique de Louvain, Avenue Hippocrate 74+4, Brussels, Belgium Centre Labiopalatin, Division of Plastic Surgery, Cliniques universitaires St Luc, Brussels, Belgium

57. Definitions Of Genetic Disorders -P Paramedian Lower Lip PitsPopliteal Pyerygium Syndrome popiteal.htm popliteal pterygium syndrome popiteal.htm Porcupine Man epidnev.htm http://www.icomm.ca/geneinfo/def-p.htm

58. MyDNA.com - Gene Involved In Cleft Lip And Palate Identified with a related condition called popliteal pterygium syndrome, or PPS. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. http://www.mydna.com/health/oral/genetics/cleftgene.html

@import url(http://www.mydna.com/plone.css); @import url(http://www.mydna.com/ploneCustom.css); myDNA.com Search Yellow Pages News ... Diets Search For In Entire Site Articles News Images Advanced Search Home Health Center ... Genetics Gene Involved in Cleft Lip and Palate Identified Page Tools Print This Page E-Mail This Page Add to Favorites Genetics Genetics Envirogenomics Nutrigenomics Pharmacogenomics Health Allergy Asthma Brain Tumors Breast Cancer Cervical Cancer Colorectal Cancer Dental Health News Ask Dr. DNA Top Tens Healthy Teeth Childhood Dental Special Care Genetics Medications Diagnostic Tests Tools Web Directory Medical Board Diabetes Digestive Disorders

59. Wide Smiles Gallery: Daniel Alexander Daniel also has popliteal pterygium syndrome*. popliteal pterygium syndromeis an autosomal dominant genetic disorder occurring in approximately 1 out 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]

60. UNSW Embryology-OMIM Syndactyly List 146510 PALLISTERHALL SYNDROME; PHS *263650 popliteal pterygium syndrome, LETHALTYPE *225060 ECTODERMAL DYSPLASIA, TYPE 4; ED4 http://embryology.med.unsw.edu.au/OMIMfind/skmus/OMIM-syndactyly_list.htm

UNSW Embryology MUSCULOSKELETAL 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-Musculoskeletal Notes 169 entries found, searching for " syndactyly SYNDACTYLY, TYPE III SYNDACTYLY, TYPE IV SYNDACTYLY, TYPE V CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS SYNDACTYLY, TYPE I SYNDACTYLY, TYPE II ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, HAND AND FOOT DEFORMITY, AND MENTAL RETARDATION SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION CENANI SYNDACTYLISM SCLEROSTEOSIS SAETHRE-CHOTZEN SYNDROME; SCS SYNDACTYLY WITH RENAL AND ANOGENITAL MALFORMATIONS ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY ANOPHTHALMOS WITH LIMB ANOMALIES POLAND SYNDROME SYNDACTYLY-POLYDACTYLY-EARLOBE SYNDROME LONG QT SYNDROME WITH SYNDACTYLY APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL IV

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