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Eur J Med Genet. 2013 Oct;56(10):556-60. doi: 10.1016/j.ejmg.2013.07.005. Epub 2013 Aug 7.

Finger creases lend a hand in Kabuki syndrome.

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  • 1Département de Génétique, Unité Inserm U781, Institut Imagine, Hôpital Necker enfants Malades, CLAD Ile de France, Paris, France.


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.


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

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