scholarly journals Large Angle Congenital Esotropia in a Child With Kabuki Syndrome: A Case Report

Cureus ◽  
2020 ◽  
Author(s):  
Talaat Hamdi ◽  
Ahmed Basheikh
Keyword(s):  
Case Report ◽  
Large Angle ◽  
Kabuki Syndrome ◽  
Congenital Esotropia

scholarly journals Systematic review of Kabuki Syndrome’s phenotype with KMT2D gene mutation

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Leonardo Bonini Fischetti ◽  
Julia Zaccarelli Magalhães ◽  
André Rinaldi Fukushima ◽  
Paula Waziry ◽  
Esther Lopes Ricci
Keyword(s):  
Systematic Review ◽  
Differential Diagnosis ◽  
Case Report ◽  
Animal Models ◽  
Case Reports ◽  
Accurate Diagnosis ◽  
Kabuki Syndrome ◽  
Live Births ◽  
Comparative Review ◽  
Secondary Phenotypes

Kabuki Syndrome is rare and poorly documented, initially mentioned by Niikawa and Kuroki in 1981. The prevalence of the syndrome among live births is 1:32,000. Case reports are now available, which correlates to improved techniques for accurate diagnosis. This study focused on a systematic comparative review of the phenotypes of individuals with Kabuki Syndrome, with the purpose to facilitate diagnosis. The systematic review was done with a bibliographic survey of case studies using the following databases: Pubmed, Science Direct and Google Scholar, in conjunction with the following key-words: Kabuki syndrome, phenotype, KMT2D and case report. The literature shows that patients with this syndrome present five main characteristics, besides several types of secondary phenotypes. These characteristics present variations in permeability as well as expressivity of some genes in individuals, therefore, a characterization through phenotype alone becomes limited, making it necessary to perform genetic analysis for differential diagnosis. In order to increase the knowledge and elucidate mechanisms of Kabuki syndrome, we suggest further studies that utilize animal models.

scholarly journals Capillary malformations in a child with Kabuki syndrome: A case report

2019 ◽  
Vol 5 (6) ◽  
pp. 560-562
Author(s):  
Nikki C. Geers ◽  
H. Bing Thio ◽  
Wim J.A. de Kort
Keyword(s):  
Case Report ◽  
Kabuki Syndrome

scholarly journals Spinal ependymoma in a patient with Kabuki syndrome: a case report

2015 ◽  
Vol 16 (1) ◽  
Author(s):  
Davide Roma ◽  
Paolo Palma ◽  
Rossella Capolino ◽  
Lorenzo Figà-Talamanca ◽  
Francesca Diomedi-Camassei ◽  
...  
Keyword(s):  
Case Report ◽  
Kabuki Syndrome ◽  
Spinal Ependymoma

Kabuki syndrome: a case report

2006 ◽  
Vol 33 (4) ◽  
pp. 242-245 ◽  
Author(s):  
Z. H. S. Lung ◽  
A. Rennie
Keyword(s):  
Case Report ◽  
Kabuki Syndrome

scholarly journals PRIMARY AMENORRHEA IN KABUKI SYNDROME: A CASE REPORT

2018 ◽  
Vol 6 (2.3) ◽  
pp. 5306-5309
Author(s):  
Nandha Kumar Subbiah ◽  
◽  
Sarah Ramamurthy ◽  
Aravindhan Karuppusamy ◽  
◽  
...  
Keyword(s):  
Case Report ◽  
Primary Amenorrhea ◽  
Kabuki Syndrome

scholarly journals Kabuki syndrome: from Japanese theater to Poland – a case report

2019 ◽  
Vol 28 (56) ◽  
pp. 57-61
Author(s):  
Bartosz Kępka ◽  
◽  
Katarzyna Marzęda ◽  
Magdalena Chrościńska-Krawczyk ◽  
◽  
...  
Keyword(s):  
Case Report ◽  
Kabuki Syndrome

scholarly journals Surgical management of large angle congenital esotropia.

1987 ◽  
Vol 71 (5) ◽  
pp. 380-383 ◽  
Author(s):  
L B Nelson ◽  
J H Calhoun ◽  
J W Simon ◽  
T Wilson ◽  
R D Harley
Keyword(s):  
Surgical Management ◽  
Large Angle ◽  
Congenital Esotropia

Minimal invasive vertical muscle transposition for the treatment of large angle exotropia due to congenital medial rectus hypoplasia: Case Report and Literature Review

Strabismus ◽  
2020 ◽  
Vol 28 (3) ◽  
pp. 158-162
Author(s):  
Mohammad Yaser Kiarudi ◽  
Aliakbar Sabermoghadam ◽  
Mahsa Sardabi ◽  
Seyed Vahid Jafarzadeh ◽  
Mohammad Etezad Razavi
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Large Angle ◽  
Minimal Invasive ◽  
Medial Rectus ◽  
Muscle Transposition
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