Extractions: 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.
Extractions: 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.
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
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
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/
Extractions: 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.
Extractions: Liste des Articles 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
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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
Extractions: Search through: Entire site Popliteal Pterygium Syndrome DIRECTORY Health/Fitness Diseases Genetic Disorders ... NORD - Popliteal Pterygium Syndrome - Offers synonyms, a general discussion and further resources. National Library of Medicine - Includes the synonyms of multiple pterygium syndrome, a summary and the major features.
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
Popliteal Pterygium Syndrome For Medical Professionals only. popliteal pterygium syndrome . see pterygium syndrome http://www.amersham-health.com/medcyclopaedia/Volume%20VII/POPLITEAL%20PTERYGIUM
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 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
Extractions: Liste des Articles 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
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}
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
Extractions: HOME F Syndrome F Form of Acropectorovertebral Dysplasia Fabry Disease Facial Asymmetry/Hemihypertrophy Facial Palsy Facioaudiosymphalangism Syndrome F acio a uriculo v ertebral ( FAV ) Sequence F acio c utaneo s keletal ( FCS ) Syndrome Faciogenital Dysplasia Faciodigitogenital Syndrome Faciogenitopopliteal Syndrome (Popliteal Pterygium Syndrome) Faciopalatoosseous Syndrome Facioscapulohumeral Muscular Dystrophy (FSH, Landouzy-Dejerine Dystrophy) Factor XI Deficiency Fahr Disease (Basal Ganglia Calcification, Idiopathic; Cerebral Calcification, Nonarteriosclerotic; Ferrocalcinosis, Cerebrovascular; S trio p alli d odentate [ SPD ] Calcinosis) Fairbank's Disease Familial Atypical Mole-Malignant Melanoma Syndrome See Melanoma, Familial/Cutaneous Malignant Type
Extractions: 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
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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