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Elsevier, European Journal of Medical Genetics, 10(56), p. 556-560

DOI: 10.1016/j.ejmg.2013.07.005

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Finger creases lend a hand in Kabuki syndrome.

Journal article published in 2013 by Caroline Michot ORCID, 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 and other authors.
This paper is available in a repository.
This paper is available in a repository.

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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.