Congenital corneal staphyloma as a complication of Kabuki syndrome

2012 ◽  
Vol 158A (8) ◽  
pp. 2000-2002 ◽  
Author(s):  
Ryuma Tanaka ◽  
Toshiki Takenouchi ◽  
Keiko Uchida ◽  
Takeshi Sato ◽  
Hiroyuki Fukushima ◽  
...  
Keyword(s):  
Kabuki Syndrome ◽  
Corneal Staphyloma

scholarly journals Correction to: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Young-In Chi ◽  
Timothy J. Stodola ◽  
Thiago M. De Assuncao ◽  
Elise N. Levrence ◽  
Swarnendu Tripathi ◽  
...  
Keyword(s):  
Molecular Mechanics ◽  
Kabuki Syndrome ◽  
Dynamic Simulations

An amendment to this paper has been published and can be accessed via the original article.

scholarly journals Congenital corneal staphyloma: clinical, radiological, and pathological correlation.

1986 ◽  
Vol 70 (6) ◽  
pp. 427-430 ◽  
Author(s):  
S. R. Leff ◽  
J. A. Shields ◽  
J. J. Augsburger ◽  
A. D. Sakowski ◽  
C. J. Blair
Keyword(s):  
Pathological Correlation ◽  
Corneal Staphyloma

Aural atresia and microtia in Kabuki syndrome

2003 ◽  
Vol 118A (4) ◽  
pp. 391-393 ◽  
Author(s):  
Nancy Mizue Kokitsu-Nakata ◽  
Maria Leine Guion-Almeida
Keyword(s):  
Kabuki Syndrome ◽  
Aural Atresia

scholarly journals Finger creases lend a hand in Kabuki syndrome

2013 ◽  
Vol 56 (10) ◽  
pp. 556-560 ◽  
Author(s):  
Caroline Michot ◽  
Carole Corsini ◽  
Damien Sanlaville ◽  
Clarisse Baumann ◽  
Annick Toutain ◽  
...  
Keyword(s):  
Kabuki Syndrome

Cleft Palate in Kabuki Syndrome: A Report of Six Cases

2006 ◽  
Vol 43 (6) ◽  
pp. 756-761 ◽  
Author(s):  
Takuya Iida ◽  
Susam Park ◽  
Kogo Kato ◽  
Ichiko Kitano
Keyword(s):  
Cleft Palate ◽  
Clinical Features ◽  
Congenital Anomalies ◽  
Kabuki Syndrome ◽  
Characteristic Appearance ◽  
Submucous Cleft Palate ◽  
Velopharyngeal Function

Kabuki syndrome is a syndrome of rare congenital anomalies that was named after its characteristic appearance, a face resembling that of an actor in a Kabuki play. Although cleft palate is a feature that is sometimes observed in patients with Kabuki syndrome, there are few clinical reports of cleft palate associated with Kabuki syndrome. This report presents six cases of Kabuki syndrome with cleft palate and reviews their clinical features. Our results suggest that (1) patients with cleft palate in Kabuki syndrome tend to fail in acquiring normal velopharyngeal function and (2) submucous cleft palate might be more common in patients with Kabuki syndrome than previously was reported.

scholarly journals Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome

2017 ◽  
Vol 173 (4) ◽  
pp. 1115-1118 ◽  
Author(s):  
Maria Haanpää ◽  
Helena Schlecht ◽  
Gauri Batra ◽  
Jill Clayton-Smith ◽  
Sofia Douzgou
Keyword(s):  
Kabuki Syndrome ◽  
Diagnostic Clue
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