Literature DB >> 22953299

Popliteal pterygium syndrome: a rare entity.

Muhammad Qasim1, Mahmood Shaukat.   

Abstract

The popliteal pterygium syndrome is a congenital malformation that includes orofacial, musculoskeletal and genitourinary anomalies. It is a rare autosomal dominant disorder. We report one family with popliteal pterygium syndrome affecting father and his two daughters, who underwent surgical corrections for multiple congenital malformations.

Entities:  

Keywords:  Autosomal dominant disorder; Familial; Popliteal pterygium syndrome

Year:  2012        PMID： 22953299      PMCID： PMC3418038     

Source DB:  PubMed          Journal:  APSP J Case Rep        ISSN： 2218-8185


  8 in total

1.  Popliteal pterygium syndrome.

Authors:  H Z Herold; G Shmueli; A M Baruchin
Journal:  Clin Orthop Relat Res       Date:  1986-08       Impact factor: 4.176

2.  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

3.  Syndromes with cleft lip and cleft palate.

Authors:  M M Cohen
Journal:  Cleft Palate J       Date:  1978-10

4.  Popliteal pterygium syndrome: a phenotypic and genetic analysis.

Authors:  V Escobar; D Weaver
Journal:  J Med Genet       Date:  1978-02       Impact factor: 6.318

5.  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

6.  Treatment of popliteal pterygium using an Ilizarov external fixator.

Authors:  Hyoung-Min Kim; Il-Jung Park; Changhoon Jeong
Journal:  Clin Orthop Surg       Date:  2009-11-25

7.  Cleft lip+/-cleft palate: an overview of the literature and an analysis of Danish cases born between 1941 and 1968.

Authors:  M Melnick; D Bixler; P Fogh-Andersen; P M Conneally
Journal:  Am J Med Genet       Date:  1980

8.  Limb pterygium syndromes: a review and report of eleven patients.

Authors:  J G Hall; S D Reed; K N Rosenbaum; J Gershanik; H Chen; K M Wilson
Journal:  Am J Med Genet       Date:  1982-08
  8 in total

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