Literature DB >> 655146

Multiple pterygium syndrome.

V Escobar, D Bixler, S Gleiser, D D Weaver, T Gibbs.   

Abstract

After treating a 12-year-old patient with multiple pterygium syndrome, we ascertained the minimal diagnostic criteria of pterygia in the neck, axilla, antecubital, and even popliteal areas; evidence supports autosomal recessive inheritance for this syndrome.

Entities:  

Mesh：

Year:  1978        PMID： 655146     DOI： 10.1001/archpedi.1978.02120310073016

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN： 0002-922X


  21 in total

1.  Multiple pterygium syndrome.

Authors:  F F Ozkinay; C Ozkinay; H Akin; S Azarsiz; C Gündüz
Journal:  Indian J Pediatr       Date:  1997 Jan-Feb       Impact factor: 1.967

2.  Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

Authors:  Neil V Morgan; Louise A Brueton; Phillip Cox; Marie T Greally; John Tolmie; Shanaz Pasha; Irene A Aligianis; Hans van Bokhoven; Tamas Marton; Lihadh Al-Gazali; Jenny E V Morton; Christine Oley; Colin A Johnson; Richard C Trembath; Han G Brunner; Eamonn R Maher
Journal:  Am J Hum Genet       Date:  2006-06-20       Impact factor: 11.025

3.  Popliteal pterygium syndrome.

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

4.  Multiple pterygium syndrome: evolution of the phenotype.

Authors:  E M Thompson; D Donnai; M Baraitser; C M Hall; M E Pembrey; J Fixsen
Journal:  J Med Genet       Date:  1987-12       Impact factor: 6.318

5.  Multiple pterygium syndrome type Escobar in two brothers. Follow-up data from childhood to adulthood.

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

6.  Pathologic features in two siblings with the Pena-Shokeir I syndrome.

Authors:  M Bisceglia; L Zelante; C Bosman; R Cera; B Dallapiccola
Journal:  Eur J Pediatr       Date:  1987-05       Impact factor: 3.183

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.  Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

Authors:  Katrin Hoffmann; Juliane S Muller; Sigmar Stricker; Andre Megarbane; Anna Rajab; Tom H Lindner; Monika Cohen; Eliane Chouery; Lynn Adaimy; Ismat Ghanem; Valerie Delague; Eugen Boltshauser; Beril Talim; Rita Horvath; Peter N Robinson; Hanns Lochmüller; Christoph Hübner; Stefan Mundlos
Journal:  Am J Hum Genet       Date:  2006-06-20       Impact factor: 11.025

9.  Multiple pterygium syndrome.

Authors:  V B Penchaszadeh; B Salszberg
Journal:  J Med Genet       Date:  1981-12       Impact factor: 6.318

10.  Zebrafish model for congenital myasthenic syndrome reveals mechanisms causal to developmental recovery.

Authors:  Michael Walogorsky; Rebecca Mongeon; Hua Wen; Nathan R Nelson; Jason M Urban; Fumihito Ono; Gail Mandel; Paul Brehm
Journal:  Proc Natl Acad Sci U S A       Date:  2012-10-08       Impact factor: 11.205
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