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Finger creases lend a hand in Kabuki syndrome.

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.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Michot C,Corsini C,Sanlaville D,Baumann C,Toutain A,Philip N,Busa T,Holder M,Faivre L,Odent S,Delrue MA,Till M,Jacquemont ML,Cordier MP,Goldenberg A,Sanchez E,Alix E,Poisson S,Kayirangwa H,Lacombe D,Gilbert-Dussar

doi

10.1016/j.ejmg.2013.07.005

subject

Has Abstract

pub_date

2013-10-01 00:00:00

pages

556-60

issue

10

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(13)00160-2

journal_volume

56

pub_type

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