Literature DB >> 2831369

An autosomal dominant multiple pterygium syndrome.

C M McKeown1, R Harris.   

Abstract

Three sibs and their mother with features of a multiple pterygium syndrome are reported. Inheritance in this family is consistent with autosomal dominant inheritance with great variation in severity between affected subjects. The importance of examining other family members closely in cases of multiple pterygium is emphasised.

Mesh：

Year:  1988        PMID： 2831369      PMCID： PMC1015450          DOI： 10.1136/jmg.25.2.96

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


  5 in total

1.  [Familial pterygium syndrome with probably dominant transmission linked to the X chromosome].

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

2.  Multiple pterygium syndrome.

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

3.  Distal arthrogryposis type II: a family with varying congenital abnormalities.

Authors:  J A Reiss; L J Sheffield
Journal:  Am J Med Genet       Date:  1986-06

4.  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

Review 5.  The distal arthrogryposes: delineation of new entities--review and nosologic discussion.

Authors:  J G Hall; S D Reed; G Greene
Journal:  Am J Med Genet       Date:  1982-02
  5 in total
  8 in total

1.  Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Authors:  Jessica X Chong; Lindsay C Burrage; Anita E Beck; Colby T Marvin; Margaret J McMillin; Kathryn M Shively; Tanya M Harrell; Kati J Buckingham; Carlos A Bacino; Mahim Jain; Yasemin Alanay; Susan A Berry; John C Carey; Richard A Gibbs; Brendan H Lee; Deborah Krakow; Jay Shendure; Deborah A Nickerson; Michael J Bamshad
Journal:  Am J Hum Genet       Date:  2015-05-07       Impact factor: 11.025

2.  Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.

Authors:  Yavuz Bayram; Ender Karaca; Zeynep Coban Akdemir; Elif Ozdamar Yilmaz; Gulsen Akay Tayfun; Hatip Aydin; Deniz Torun; Sevcan Tug Bozdogan; Alper Gezdirici; Sedat Isikay; Mehmed M Atik; Tomasz Gambin; Tamar Harel; Ayman W El-Hattab; Wu-Lin Charng; Davut Pehlivan; Shalini N Jhangiani; Donna M Muzny; Ali Karaman; Tamer Celik; Ozge Ozalp Yuregir; Timur Yildirim; Ilhan A Bayhan; Eric Boerwinkle; Richard A Gibbs; Nursel Elcioglu; Beyhan Tuysuz; James R Lupski
Journal:  J Clin Invest       Date:  2016-01-11       Impact factor: 14.808

3.  Escobar syndrome mimicing congenital patellar syndrome.

Authors:  Naci Ezirmik; Kadri Yildiz; Cahit Emre Can
Journal:  Eurasian J Med       Date:  2012-08

4.  A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9.

Authors:  M Bamshad; W S Watkins; R K Zenger; J F Bohnsack; J C Carey; B Otterud; P A Krakowiak; M Robertson; L B Jorde
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

5.  Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.

Authors:  Raphael Carapito; Alice Goldenberg; Nicodème Paul; Angélique Pichot; Albert David; Antoine Hamel; Clémentine Dumant-Forest; Julien Leroux; Benjamin Ory; Bertrand Isidor; Seiamak Bahram
Journal:  Eur J Hum Genet       Date:  2016-07-06       Impact factor: 4.246

6.  Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.

Authors:  Arthur B McKie; Atif Alsaedi; Julie Vogt; Kyra E Stuurman; Marjan M Weiss; Hassan Shakeel; Louise Tee; Neil V Morgan; Peter G J Nikkels; Gijs van Haaften; Soo-Mi Park; Jasper J van der Smagt; Marianna Bugiani; Eamonn R Maher
Journal:  Acta Neuropathol Commun       Date:  2014-12-05       Impact factor: 7.801

7.  Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.

Authors:  Ariana Kariminejad; Navid Almadani; Atefeh Khoshaeen; Bjorn Olsson; Ali-Reza Moslemi; Homa Tajsharghi
Journal:  BMC Genet       Date:  2016-05-31       Impact factor: 2.797

Review 8.  Pena-Shokeir syndrome: current management strategies and palliative care.

Authors:  Sumaiya Adam; Melantha Coetzee; Engela Magdalena Honey
Journal:  Appl Clin Genet       Date:  2018-10-25
  8 in total

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