Literature DB >> 18314001

Question mark ears and post-auricular tags.

Erica H Gerkes1, Conny M A van Ravenswaaij, Anthonie J van Essen.   

Abstract

Questions mark ears are an easily recognisable but uncommon malformation of the external ear. They can be found as an isolated malformation and are a pathognomonic sign of the auriculo-condylar syndrome. An additional unique sign in this syndrome may be present in the form of post-auricular tags. Such malformations should prompt further investigation for other signs of the auriculo-condylar syndrome.

Entities:  

Mesh:

Year:  2008        PMID: 18314001     DOI: 10.1016/j.ejmg.2008.01.002

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN: 1769-7212            Impact factor:   2.708


  3 in total

Review 1.  Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies.

Authors:  David E Clouthier; Maria Rita Passos-Bueno; Andre L P Tavares; Stanislas Lyonnet; Jeanne Amiel; Christopher T Gordon
Journal:  Am J Med Genet C Semin Med Genet       Date:  2013-10-04       Impact factor: 3.908

Review 2.  Syndromes of the first and second branchial arches, part 2: syndromes.

Authors:  J M Johnson; G Moonis; G E Green; R Carmody; H N Burbank
Journal:  AJNR Am J Neuroradiol       Date:  2010-04-01       Impact factor: 3.825

3.  A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.

Authors:  Mark J Rieder; Glenn E Green; Sarah S Park; Brendan D Stamper; Christopher T Gordon; Jason M Johnson; Christopher M Cunniff; Joshua D Smith; Sarah B Emery; Stanislas Lyonnet; Jeanne Amiel; Muriel Holder; Andrew A Heggie; Michael J Bamshad; Deborah A Nickerson; Timothy C Cox; Anne V Hing; Jeremy A Horst; Michael L Cunningham
Journal:  Am J Hum Genet       Date:  2012-05-04       Impact factor: 11.025

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.