Finger creases lend a hand in Kabuki syndrome.
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.
Département de Génétique, Unité Inserm U781, Institut Imagine, Hôpital Necker enfants Malades, CLAD Ile de France, Paris, France.
Caroline
C
Michot
Carole
C
Corsini
Damien
D
Sanlaville
Clarisse
C
Baumann
Annick
A
Toutain
Nicole
N
Philip
Tiffany
T
Busa
Muriel
M
Holder
Laurence
L
Faivre
Sylvie
S
Odent
Marie-Ange
MA
Delrue
Marianne
M
Till
Marie-Line
ML
Jacquemont
Marie-Pierre
MP
Cordier
Alice
A
Goldenberg
Elodie
E
Sanchez
Eudeline
E
Alix
Sylvain
S
Poisson
Honorine
H
Kayirangwa
Didier
D
Lacombe
Brigitte
B
Gilbert-Dussardier
Anna
A
Pelet
Joëlle
J
Roume
Aurélia
A
Jacquette
Bertrand
B
Isidor
Fabienne
F
Giuliano
Lydie
L
Burglen
Mélanie
M
Fradin
Elise
E
Schaefer
Yves
Y
Alembick
Bérénice
B
Doray
Anne
A
Moncla
Delphine
D
Héron
Marjolaine
M
Willems
Lucile
L
Pinson
Kim Hanh
KH
Le Quan Sang
Martine
M
Le Merrer
Valérie
V
Cormier-Daire
Pierre
P
Sarda
Jeanne
J
Amiel
Stanislas
S
Lyonnet
David
D
Geneviève
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006402:Hematologic Diseases / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008297:Male; D015837:Vestibular Diseases / Q000175:diagnosis*
Attenuation; Finger crease; Kabuki syndrome; MLL2; Novel clinical feature