Literature DB >> 23933090

Finger creases lend a hand in Kabuki syndrome.

Caroline Michot1, Carole Corsini, Damien Sanlaville, Clarisse Baumann, Annick Toutain, Nicole Philip, Tiffany Busa, Muriel Holder, Laurence Faivre, Sylvie Odent, Marie-Ange Delrue, Marianne Till, Marie-Line Jacquemont, Marie-Pierre Cordier, Alice Goldenberg, Elodie Sanchez, Eudeline Alix, Sylvain Poisson, Honorine Kayirangwa, Didier Lacombe, Brigitte Gilbert-Dussardier, Anna Pelet, Joëlle Roume, Aurélia Jacquette, Bertrand Isidor, Fabienne Giuliano, Lydie Burglen, Mélanie Fradin, Elise Schaefer, Yves Alembick, Bérénice Doray, Anne Moncla, Delphine Héron, Marjolaine Willems, Lucile Pinson, Kim Hanh Le Quan Sang, Martine Le Merrer, Valérie Cormier-Daire, Pierre Sarda, Jeanne Amiel, Stanislas Lyonnet, David Geneviève.   

Abstract

Kabuki syndrome (KS) is a rare syndrome associating malformations with intellectual deficiency and numerous visceral, orthopedic, endocrinological, immune and autoimmune complications. The early establishment of a diagnostic of KS leads to better care of the patients and therefore prevents complications such as perception deafness, severe complications of auto-immune diseases or obesity. However, the diagnosis of KS remains difficult because based on the appreciation of facial features combined with other highly variable features. We describe a novel sign, namely the attenuation and/or congenital absence of the IPD crease of the third and fourth fingers associated with limitation of flexion of the corresponding joints, which seems to be specific of KS and could help the clinician to diagnose KS.
Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Entities:  

Keywords:  Attenuation; Finger crease; Kabuki syndrome; MLL2; Novel clinical feature

Mesh:

Year:  2013        PMID: 23933090     DOI: 10.1016/j.ejmg.2013.07.005

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


  2 in total

Review 1.  Epigenetic control of the immune system: a lesson from Kabuki syndrome.

Authors:  Stefano Stagi; Anna Virginia Gulino; Elisabetta Lapi; Donato Rigante
Journal:  Immunol Res       Date:  2016-04       Impact factor: 2.829

Review 2.  Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms.

Authors:  Yi-Rou Wang; Nai-Xin Xu; Jian Wang; Xiu-Min Wang
Journal:  World J Pediatr       Date:  2019-10-05       Impact factor: 2.764

  2 in total

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