| Literature DB >> 23933090 |
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.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