Format

Send to

Choose Destination
See comment in PubMed Commons below
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.

Author information

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

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.

KEYWORDS:

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

PMID:
23933090
DOI:
10.1016/j.ejmg.2013.07.005
[Indexed for MEDLINE]
Free full text
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science Icon for HAL archives ouvertes
    Loading ...
    Support Center