1. A CASE OF A NEW SYNDROME OR A VARIANT OF THE RARE POPLITEAL PTERYGIUM SYNDROME ABSTRACT. The popliteal pterygium syndrome is very rare, and is characterized by a congenital popliteal web accompanying http://www.worldscinet.com/jmr/05/0501/S0218957701000428.html

What's New New Journals Browse Journals Search ... Advertising Enquiries Journal of Musculoskeletal Research, Vol. 5, No. 1 (2001) 73-77 doi:10.1142/S0218957701000428 A CASE OF A NEW SYNDROME OR A VARIANT OF THE RARE POPLITEAL PTERYGIUM SYNDROME , Zekeriya Tosun , Mehmet Arazi and M. I. Safa Kapicioglu Department of Orthopedics and Traumatology e-mail tunccevat@hotmail.com ABSTRACT The popliteal pterygium syndrome is very rare, and is characterized by a congenital popliteal web accompanying the genitourinary, craniofacial, and musculoskeletal anomalies. We described a case of presumably popliteal pterygium syndrome with severe right popliteal web, right renal agenesis, left bifurcated ninth rib, urethral orifice in the vagina, right presacral discoloration resembling A-V malformation, imperforate anus, skin dimple in the left gluteal region, right calcaneovalgus foot with supernumerary digits and aberrant profunda femoris artery. This is the first report of this combination in the pertinent literature. Keywords : Knee contracture, Popliteal pterygium, Congenital anomaly

2. Popliteal Pterygium Syndrome | JACPOC Library, 1985 Figures. References. Send Link. Send HTML Article. popliteal pterygium syndrome.WILLIAM OPPENHEIM, MD, AND YOSHIO SETOGUCHI, MD**Los Angeles, California. http://jacpoc.oandp.com/library/1985_03_041a.asp

Keyword search: Exact Phrase All Words Any Words Boolean Search oandp.com JACPOC Library 1985 Vol 20, Num 3 Link to Figures Show Figures Article Text Figures References Send Link Send HTML Article Popliteal Pterygium Syndrome WILLIAM OPPENHEIM, MD, AND YOSHIO SETOGUCHI, MD**Los Angeles, California The association of popliteal pterygia, genitourinary anomalies and craniofacial malformations was first described in 1869. Since then 30 cases have been reported, and Gorlin and others have written extensive reviews of the syndrome. Although the condition is rare, the Child Amputee Clinic at UCLA has had eight cases. Two required amputations. Four areas are involved: craniofacial anomalies, including cleft lip with and without cleft palate, syngnathia and lip pits; cutaneous malformations, including pterygium, toenail dysplasia and digital dysplasia; musculoskeletal anomalies, including hyperplastic tibia and patella, scoliosis and vertebral anomalies, congenital hip dysplasia and spina bifida occulta; and genitourinary anomalies, such as cryptorchism, absent or ectopic scrotum, absence or displaced labia majora and hypoplastic uterus. None of our cases has shown mental retardation. Evidence points to an autosomal dominant inheritance pattern with variable expressivity and incomplete penetrance. Orthopedically, soft tissue release of the knee, avoiding injury to the often displaced sciatic nerve, followed by distal femoral extension osteotomy allowed satisfactory ambulation. Amputation was reserved for those with tibial hemimelia. Tight heel cords are released early to prevent the development of rocker-bottom feet.

3. NORD - Popliteal Pterygium Syndrome Offers synonyms, a general discussion and further resources. http://www.stepstn.com/cgi-win/nord.exe?proc=Redirect&type=rdb_sum&id=10

4. Popliteal Pterygium Syndrome : Meddie Health Search search options. Home Health Conditions and Diseases GeneticDisorders popliteal pterygium syndrome. ITEMS LINKS National http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/Po

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases ... Genetic Disorders : Popliteal Pterygium Syndrome ITEMS: LINKS: National Library of Medicine Includes the synonyms of multiple pterygium syndrome, a summary and the major features. (Rating: 0.00 Votes: 0) Rate It HOME ADD A LINK MODIFY A LINK ... Design © ISC Enterprises Inc.

5. Google Directory - Health > Conditions And Diseases > Genetic Disorders > Poplit Search only in popliteal pterygium syndrome Search the Web popliteal pterygium syndrome National Library of Medicine http// www. gov/ mesh/ jablonski/ syndromes/ syndrome471. http://directory.google.ch/Top/Health/Conditions_and_Diseases/Genetic_Disorders/

Directory Help Search only in Popliteal Pterygium Syndrome Search the Web Popliteal Pterygium Syndrome Health Conditions and Diseases Genetic Disorders Go to Directory Home Related Category: Web Pages Viewing in Google PageRank order View in alphabetical order National Library of Medicine http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome471.html Includes the synonyms of multiple pterygium syndrome, a summary and the major features. NORD - Popliteal Pterygium Syndrome Offers synonyms, a general discussion and further resources. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Advertise with Us

6. Genetic Disorders : Meddie Health Search PallisterHall Syndrome (7). Personal Pages (8). popliteal pterygium syndrome(2). Prader-Willi Syndrome (8). Proteus Syndrome (4). Prune Belly Syndrome (3). http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases : Genetic Disorders CATEGORIES: Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome Alagille Syndrome ... Zellweger Syndrome ITEMS: LINKS: Acid Maltase Deficiency A brief summary of AMD along with links and news. (Rating: 0.00 Votes: 0) Rate It Chromosome Deletion Outreach. Provides support and information to families. Includes family stories, a library, FAQs and resources. (Rating: 0.00 Votes: 0) Rate It Dr. Greene's HouseCalls A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. (Rating: 0.00 Votes: 0) Rate It GeneClinics: Medical Genetics Knowledge Base NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. (Rating: 0.00 Votes: 0) Rate It 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. (Rating: 0.00 Votes: 0)

7. Popliteal Pterygium Syndrome | JACPOC Library, 1985 popliteal pterygium syndrome. WILLIAM OPPENHEIM, MD, AND YOSHIO SETOGUCHI, MD**Los Angeles, California http://www.jacpoc.oandp.com/library/1985_03_041a.asp

Keyword search: Exact Phrase All Words Any Words Boolean Search oandp.com JACPOC Library 1985 Vol 20, Num 3 Link to Figures Show Figures Article Text Figures References Send Link Send HTML Article Popliteal Pterygium Syndrome WILLIAM OPPENHEIM, MD, AND YOSHIO SETOGUCHI, MD**Los Angeles, California The association of popliteal pterygia, genitourinary anomalies and craniofacial malformations was first described in 1869. Since then 30 cases have been reported, and Gorlin and others have written extensive reviews of the syndrome. Although the condition is rare, the Child Amputee Clinic at UCLA has had eight cases. Two required amputations. Four areas are involved: craniofacial anomalies, including cleft lip with and without cleft palate, syngnathia and lip pits; cutaneous malformations, including pterygium, toenail dysplasia and digital dysplasia; musculoskeletal anomalies, including hyperplastic tibia and patella, scoliosis and vertebral anomalies, congenital hip dysplasia and spina bifida occulta; and genitourinary anomalies, such as cryptorchism, absent or ectopic scrotum, absence or displaced labia majora and hypoplastic uterus. None of our cases has shown mental retardation. Evidence points to an autosomal dominant inheritance pattern with variable expressivity and incomplete penetrance. Orthopedically, soft tissue release of the knee, avoiding injury to the often displaced sciatic nerve, followed by distal femoral extension osteotomy allowed satisfactory ambulation. Amputation was reserved for those with tibial hemimelia. Tight heel cords are released early to prevent the development of rocker-bottom feet.

8. Popliteal Pterygium Syndrome popliteal pterygium syndrome . http://www.imageriedusport.com/Bibliotheque/Biblio- cadres/articlesjournaux/AJR_

Liste des Articles MR Imaging of Popliteal Pterygium Syndrome in Pediatric Patients Lane F. Donnelly, Kathleen H. Emery , Twee T. Do AJR 2002; 178:1281-1284 Article original d'AJR A propos de 2 patients, et de l'étude de 3 membres inférieurs, les auteurs confirment l'intérêt de l'IRM standard, et de artério-IRM dans le bilan pré-opératoire des "Popliteal Pterygium Syndrome". Ce syndrome associe : des malformations squelettiques, faciales

9. 1Up Health > Health Links Directory >Conditions And Diseases:Genetic Disorders:P Conditions and DiseasesGenetic Disorderspopliteal pterygium syndrome . Uncover resources and links to Web sites related to Conditions and DiseasesGenetic Disorderspopliteal pterygium syndrome . http://www.1uphealth.com/links/desc-548.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Health Directory Popliteal Pterygium Syndrome is an extremely rare inherited disorder that is apparent at birth (congenital). Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites. Home Contact Us Privacy Links Directory

10. Popliteal Pterygium Syndrome only. popliteal pterygium syndrome,, Print this article, see contractureDR The Encyclopaedia of Medical Imaging Volume III1, Disclaimer http://www.amershamhealth.com/medcyclopaedia/Volume III 1/POPLITEAL PTERYGIUM SY

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11. DIRECTORY.TERADEX.COM - Health/Fitness/Diseases/Genetic Disorders/Popliteal Pter NORD popliteal pterygium syndrome - Offers synonyms, a general discussion and further resources. http://directory.teradex.com/Health_Fitness/Diseases/Genetic_Disorders/Popliteal

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12. Popliteal Pterygium Syndrome only. popliteal pterygium syndrome,, Print this article, see pterygiumsyndrome HC The Encyclopaedia of Medical Imaging Volume VII, http://www.amershamhealth.com/medcyclopaedia/Volume VII/POPLITEAL PTERYGIUM SYND

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Popliteal pterygium syndrome, see pterygium syndrome HC The Encyclopaedia of Medical Imaging Volume VII Welcome to Medcyclopaedia. This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile. Do you live in Europe? Yes No Are you a medical professional? Yes No This frame will disappear when submitted Legal Contact us Making Waves

13. Popliteal Pterygium Syndrome For Medical Professionals only. popliteal pterygium syndrome . see pterygium syndrome http://www.amersham-health.com/medcyclopaedia/Volume%20VII/POPLITEAL%20PTERYGIUM

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Popliteal pterygium syndrome, see pterygium syndrome HC The Encyclopaedia of Medical Imaging Volume VII Welcome to Medcyclopaedia. This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile. Do you live in Europe? Yes No Are you a medical professional? Yes No This frame will disappear when submitted Legal Contact us Making Waves

14. Support Group Page popliteal pterygium syndrome. Parent Support for Popliteal PterygiumSyndrome Email TAGnLU@aol.com (Greta Nelson) Also See http://www.kumc.edu/gec/support/poplitea.html

Popliteal Pterygium Syndrome Parent Support for Popliteal Pterygium Syndrome E-mail: TAGnLU@aol.com (Greta Nelson) Also See: National organizations information on genetic conditions or birth defects To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Genetic Societies Clinical Resources ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites) of the Health On the Net Foundation

15. Popliteal Pterygium Syndrome l'IRM standard, et de artérioIRM dans le bilan pré-opératoire des "popliteal pterygium syndrome". Ce syndrome associe http://www.imageriedusport.com/Bibliotheque/Biblio-%20cadres/articlesjournaux/AJ

Liste des Articles MR Imaging of Popliteal Pterygium Syndrome in Pediatric Patients Lane F. Donnelly, Kathleen H. Emery , Twee T. Do AJR 2002; 178:1281-1284 Article original d'AJR A propos de 2 patients, et de l'étude de 3 membres inférieurs, les auteurs confirment l'intérêt de l'IRM standard, et de artério-IRM dans le bilan pré-opératoire des "Popliteal Pterygium Syndrome". Ce syndrome associe : des malformations squelettiques, faciales

16. Genetic Conditions / Rare Conditions Information Site Nicola syndrome); Periodic paralysis; Phenylketonuria (PKU); Polycystickidney disease; popliteal pterygium syndrome; Porphyria; Prader http://www.kumc.edu/gec/support/groups.html

Genetic and Rare Conditions Site Medical Genetics, University of Kansas Medical Center Lay Advocacy Groups, Support Groups, Information on Genetic Conditions and Birth Defects for Professionals, Educators and Individuals · National and International Organizations · Categories Genetic Counselors and Geneticists Children and Teen Sites Advocacy ... Z Revised March 21, 2003 Aarskog syndrome Achromatopsia Acoustic neuroma (and benign cranial nerve tumors) Adrenal hyperplasia Adrenoleukodystrophy Agenesis of corpus callosum Aicardi syndrome ... Arthrogryposis (amyoplasia) Ataxia (Friedreich ataxia, spinocerebellar ataxias, ataxia telangiectasia, essential tremor, spastic paraplegia, other) Autism Bardet-Biedl syndrome Basal cell carcinoma (Gorlin syndrome) Batten disease (neuronal ceroid lipofuscinosis) Beckwith-Wiedemann syndrome Blepharophimosis Blind (vision anomalies) Branchio-Oto-Renal (BOR) syndrome Canavan Cancer ataxia telangiectasia ... Celiac sprue dermatitis herpiformis, gluten intolerance Charcot-Marie-Tooth peroneal muscular atrophy, hereditary motor sensory neuropathy

17. WebMD - popliteal pterygium syndrome Important It is possible that the main title ofthe report popliteal pterygium syndrome is not the name you expected. http://my.webmd.com/NR/internal.asp?GUID={2E2DDB8F-09EC-4CCF-B0D1-AE6B565F4F02}

18. Birth Disorder Information Directory - F Faciodigitogenital Syndrome Recessive Form See AarskogLike Syndrome.Faciogenitopopliteal Syndrome (popliteal pterygium syndrome) Cleft Lip http://www.bdid.com/defectf.htm

HOME F F Syndrome See Acropectorovertebral Dysplasia F Form of Acropectorovertebral Dysplasia See Acropectorovertebral Dysplasia Fabry Disease See (Anderson) Fabry Disease Facial Asymmetry/Hemihypertrophy See Hemifacial Hyperplasia Facial Palsy Partial with Urinary Abnormalities See Urofacial syndrome Facioaudiosymphalangism Syndrome See WL Syndrome F acio a uriculo v ertebral ( FAV ) Sequence See Goldenhar (Gorlin) Syndrome F acio c utaneo s keletal ( FCS ) Syndrome See Costello Syndrome Faciogenital Dysplasia See Aarskog (Scott) Syndrome Faciodigitogenital Syndrome Recessive Form See Aarskog-Like Syndrome Faciogenitopopliteal Syndrome (Popliteal Pterygium Syndrome) Cleft Lip/Palate, Paramedian Mucous Cysts of the Lower Lip, Popliteal Pterygium, Digital and Genital Anomalies Also see Intersex Also see Popliteal Pterygium Syndrome, Lethal Type Faciopalatoosseous Syndrome See Otopalatodigital (OPD) Syndrome, Type II Facioscapulohumeral Muscular Dystrophy (FSH, Landouzy-Dejerine Dystrophy) DISTROFIA FACIOSCAPOLOMERALE Factor XI Deficiency GENETIC DISEASE FAQ Fahr Disease (Basal Ganglia Calcification, Idiopathic; Cerebral Calcification, Nonarteriosclerotic; Ferrocalcinosis, Cerebrovascular; S trio p alli d odentate [ SPD ] Calcinosis) FAHR DISEASE Fairbank's Disease See Beighton Goldberg Hoff Syndrome Familial Atypical Mole-Malignant Melanoma Syndrome See Melanoma, Familial/Cutaneous Malignant Type

19. Mutations In IRF6 Cause Van Der Woude And Popliteal Pterygium Syndromes popliteal pterygium syndrome (PPS; OMIM 119500) is a disorder with a similar orofacialphenotype that also includes skin and genital anomalies 5 . Phenotypic http://dx.doi.org/10.1038/ng985

Published online: 3 September 2002, doi:10.1038/ng985 volume 32 no. 2 pp 285 - 289 Mutations in cause Van der Woude and popliteal pterygium syndromes Shinji Kondo , Brian C. Schutte , Rebecca J. Richardson , Bryan C. Bjork , Alexandra S. Knight , Yoriko Watanabe , Emma Howard , Renata L.L. Ferreira de Lima , Sandra Daack-Hirsch , Achim Sander , Donna M. McDonald-McGinn , Elaine H. Zackai , Edward J. Lammer , Arthur S. Aylsworth , Holly H. Ardinger , Andrew C. Lidral , Barbara R. Pober , Lina Moreno , Mauricio Arcos-Burgos , Consuelo Valencia , Claude Houdayer , Michel Bahuau , Danilo Moretti-Ferreira , Antonio Richieri-Costa , Michael J. Dixon and - after viral infection , and is the most common syndromic form of cleft lip or palate. Popliteal pterygium syndrome (PPS; OMIM 119500) is a disorder with a similar orofacial phenotype that also includes skin and genital anomalies . Phenotypic overlap and linkage data suggest that these two disorders are allelic. We found a nonsense mutation in in the affected twin of a pair of monozygotic twins who were discordant for VWS. Subsequently, we identified mutations in in 45 additional unrelated families affected with VWS and distinct mutations in 13 families affected with PPS. Expression analyses showed high levels of

20. Searchalot Directory For Popliteal Pterygium Syndrome Sponsored Links. Top Health Conditions and Diseases Genetic Disorderspopliteal pterygium syndrome (2). Related Web Sites. http://www.searchalot.com/Top/Health/ConditionsandDiseases/GeneticDisorders/Popl

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