Literature DB >> 633318

Popliteal pterygium syndrome: a phenotypic and genetic analysis.

V Escobar, D Weaver.   

Abstract

Two additional families with popliteal pterygium syndrome are presented. Using previously published pedigrees, as well as the ones reported here, evidence is presented that supports an autosomal dominant mode of inheritance for this syndrome. Analysis of previous familial cases showed a large degree of between and within-family variation. The segregation analysis supports the dominant hypothesis (P=0.5).

Entities:  

Mesh：

Year:  1978        PMID： 633318      PMCID： PMC1012821          DOI： 10.1136/jmg.15.1.35

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  17 in total

1.  [An observed case: a curious hereditary syndrome cheilopalatoschisis with fistulas of the lower lip so associated with syndactyly, a peculiar onychoplasia, unilateral popliteal pterygium and pes varus equinus].

Authors:  D KLEIN
Journal:  J Genet Hum       Date:  1962-03

2.  Congenital popliteal webbing in siblings; a report of two cases.

Authors:  R CHAMPION; J C CREGAN
Journal:  J Bone Joint Surg Br       Date:  1959-05

3.  [Webbing of the thighs and legs containing the sciatic nerve. The popliteal webbing syndrome and multiple malformations. (Cleft palate, fistulas of the lower lip, syndactylia of the toes)].

Authors:  M FEVRE; A LANGUEPIN
Journal:  Presse Med       Date:  1962-03-17       Impact factor: 1.228

4.  Ectodermal dysplasia.

Authors:  D ROSSELLI; R GULIENETTI
Journal:  Br J Plast Surg       Date:  1961-10

5.  Congenital sinuses of the lower lip.

Authors:  Z NEUMAN; J SHULMAN
Journal:  Oral Surg Oral Med Oral Pathol       Date:  1961-12

6.  Popliteal pterygium syndrome. Evidence for a severe autosomal recessive form.

Authors:  C S Bartsocas; C V Papas
Journal:  J Med Genet       Date:  1972-06       Impact factor: 6.318

7.  Popliteal pterygium syndrome . A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies.

Authors:  R J Gorlin; H O Sedano; J Cervenka
Journal:  Pediatrics       Date:  1968-02       Impact factor: 7.124

8.  P--popliteal pterygium syndrome.

Authors:  H Pashayan; C U Bahle; S Pruzansky
Journal:  Birth Defects Orig Artic Ser       Date:  1974

9.  Ectopic scrotum--a case report.

Authors:  P S Bajaj; B N Bailey
Journal:  Br J Plast Surg       Date:  1969-01

10.  Popliteal pterygium syndrome: report of a family.

Authors:  G S Frohlich; K L Starzer; J M Tortora
Journal:  J Pediatr       Date:  1977-01       Impact factor: 4.406
View more
  9 in total

1.  Ankyloblepharon filiforme adnatum.

Authors:  C H Akkermans; L M Stern
Journal:  Br J Ophthalmol       Date:  1979-02       Impact factor: 4.638

2.  A cleft lip and palate gene, Irf6, is involved in osteoblast differentiation of craniofacial bone.

Authors:  Jake Thompson; Fabian Mendoza; Ethan Tan; Jessica Wildgrube Bertol; Arju S Gaggar; Goo Jun; Claudia Biguetti; Walid D Fakhouri
Journal:  Dev Dyn       Date:  2019-02-07       Impact factor: 3.780

3.  Popliteal pterygium syndrome.

Authors:  U G Froster-Iskenius
Journal:  J Med Genet       Date:  1990-05       Impact factor: 6.318

4.  Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.

Authors:  Ersan Kalay; Orhan Sezgin; Vasant Chellappa; Mehmet Mutlu; Heba Morsy; Hulya Kayserili; Elmar Kreiger; Aysegul Cansu; Bayram Toraman; Ebtesam Mohammed Abdalla; Yakup Aslan; Shiv Pillai; Nurten A Akarsu
Journal:  Am J Hum Genet       Date:  2011-12-22       Impact factor: 11.025

Review 5.  Toward an orofacial gene regulatory network.

Authors:  Youssef A Kousa; Brian C Schutte
Journal:  Dev Dyn       Date:  2015-09-17       Impact factor: 3.780

6.  Popliteal pterygium syndrome: a rare entity.

Authors:  Muhammad Qasim; Mahmood Shaukat
Journal:  APSP J Case Rep       Date:  2012-03-01

7.  Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.

Authors:  Gerrye Mubungu; Aimé Lumaka; Rosette Matondo; Gloire Mbayabo; Deborah Tuka; Claudarche Kayembe; Didier Mulowhe; Antoine Molua; Bruno-Paul Tady; Emmanuel Nkidiaka; Paulo Bunga; Prosper Lukusa Tshilobo; Koenraad Devriendt
Journal:  Clin Case Rep       Date:  2014-09-15

8.  Popliteal pterygium syndrome: A rare syndrome.

Authors:  Surya Rao Rao Venkata Mahipathy; Alagar Raja Durairaj; Narayanamurthy Sundaramurthy; Manimaran Ramachandran
Journal:  Indian J Plast Surg       Date:  2018 May-Aug

9.  The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.

Authors:  Youssef A Kousa; Huiping Zhu; Walid D Fakhouri; Yunping Lei; Akira Kinoshita; Raeuf R Roushangar; Nicole K Patel; A J Agopian; Wei Yang; Elizabeth J Leslie; Tamara D Busch; Tamer A Mansour; Xiao Li; Arianna L Smith; Edward B Li; Dhruv B Sharma; Trevor J Williams; Yang Chai; Brad A Amendt; Eric C Liao; Laura E Mitchell; Alexander G Bassuk; Simon Gregory; Allison Ashley-Koch; Gary M Shaw; Richard H Finnell; Brian C Schutte
Journal:  Hum Mol Genet       Date:  2019-05-15       Impact factor: 6.150
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.