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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

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
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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
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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
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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.
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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.
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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).
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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_
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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 .
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... Health Directory Popliteal Pterygium Syndrome is an extremely rare inherited disorder that is apparent at birth (congenital).
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10. Popliteal Pterygium Syndrome
only. popliteal pterygium syndrome,, Print this article, see contractureDR The Encyclopaedia of Medical Imaging Volume III1, Disclaimer
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*For Medical Professionals only, registration required Popliteal pterygium syndrome, see contracture
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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.
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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
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*For Medical Professionals only, registration required Popliteal pterygium syndrome, see pterygium syndrome
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13. Popliteal Pterygium Syndrome
For Medical Professionals only. popliteal pterygium syndrome . see pterygium syndrome
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*For Medical Professionals only, registration required Popliteal pterygium syndrome, see pterygium syndrome
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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
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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
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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

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F
F Syndrome F Form of Acropectorovertebral Dysplasia Fabry Disease Facial Asymmetry/Hemihypertrophy Facial Palsy

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.
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