Literature DB >> 25610221

Escobar syndrome mimicing congenital patellar syndrome.

Naci Ezirmik1, Kadri Yildiz1, Cahit Emre Can1.   

Abstract

Multiple pterygium syndrome (MPS) is a syndrome that is characterized abnormal face, short length and skin pterygiums on some body legions (servical, antecubital, popliteal, interdigital and on neck). It is also called as Pterygium Colli syndrome, Escobar syndrome or Pterygium syndrome. Escobar (multyple pterygium) syndrome is a rare syndrome. Intrauterin growth reterdation, abnormal face, wide-spead pterygiums that resulted in joint contractures, ptosis, chryptoorchidism, patellar dysplasia and foot deformities are seen on this syndrome. Primarly autosomal resesive crossing are observed; also autosomal dominant and X-linked crossing. This case were presented as it has components of Escobar syndrome and Isolated Patellar Aplasia syndrome in same time.

Entities:  

Keywords:  Escobar syndrome; Isolated Patellar Aplasia syndrome; Pterygium syndrome

Year:  2012        PMID: 25610221      PMCID: PMC4261289          DOI: 10.5152/eajm.2012.26

Source DB:  PubMed          Journal:  Eurasian J Med        ISSN: 1308-8734


  11 in total

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Authors:  V Madhuri; A Bose; S Danda; S Shivakumar; C Kirubakaran; M S Seshadari
Journal:  Indian Pediatr       Date:  2001-02       Impact factor: 1.411

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Journal:  J Med Genet       Date:  1987-12       Impact factor: 6.318

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Authors:  J P Fryns; P Volcke; H van den Berghe
Journal:  Eur J Pediatr       Date:  1988-06       Impact factor: 3.183

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Authors:  A Carnevale; A López Hernández; L De los Cobos
Journal:  Rev Invest Clin       Date:  1973 Jul-Sep       Impact factor: 1.451

7.  An autosomal dominant multiple pterygium syndrome.

Authors:  C M McKeown; R Harris
Journal:  J Med Genet       Date:  1988-02       Impact factor: 6.318

8.  Multiple pterygium syndrome.

Authors:  V Escobar; D Bixler; S Gleiser; D D Weaver; T Gibbs
Journal:  Am J Dis Child       Date:  1978-06

9.  Scoliosis in Escobar syndrome (multiple pterygium syndrome). Description of two cases.

Authors:  G L Di Gennaro; T Greggi; P Parisini
Journal:  Chir Organi Mov       Date:  1996 Jul-Sep

10.  Multiple pterygium syndrome (Escobar syndrome)--a case report.

Authors:  A Goh; K W Lim; V Rajalingam
Journal:  Singapore Med J       Date:  1994-04       Impact factor: 1.858

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