Kabuki's syndrome

被引：0

作者：

Guzmán-Acurio, AM ^{[1
]}

Tumbaco, R ^{[1
]}

Jaramillo, L ^{[1
]}

机构：

[1] Hosp Luis Vernaza, Neurol Serv, Guayaquil, Ecuador

来源：

REVISTA ECUATORIANA DE NEUROLOGIA | 2004年 / 13卷 / 1-2期

关键词：

D O I：

暂无

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Kabuki's mask syndrome is a rare developmental disease. Most cases are sporadic. Diagnosis is based on five criteria, including slight mental delay slight, skeletal abnormalities, dermatological alterations, slow stature, and typical fascies. We describe,the first diagnostic case of Kabuki's syndrome in our country.

引用

页码：52 / 54

页数：3

共 50 条

[41] Kabuki syndrome and diaphragmatic defect
Sethi, Sidharth K.
Faridi, M. M. A.
[J]. INDIAN PEDIATRICS, 2006, 43 (06) : 552 - 553
[42] Autoimmune disorders in Kabuki syndrome
Ming, JE
Russell, KL
McDonald-McGinn, DM
Zackai, EH
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 132A (03) : 260 - 262
[43] A case of Kabuki syndrome presenting West syndrome
Ito, Hiromichi
Mori, Kenji
Inoue, Nami
Kagami, Shoji
[J]. BRAIN & DEVELOPMENT, 2007, 29 (06): : 380 - 382
[44] Growth deficiency in a mouse model of Kabuki syndrome 2 bears mechanistic similarities to Kabuki syndrome 1
Gao, Christine W.
Lin, WanYing.
Riddle, Ryan C.
Chopra, Sheetal.
Kim, Jiyoung
Boukas, Leandros
Hansen, Kasper D.
Bjornsson, Hans T.
Fahrner, Jill A.
[J]. PLOS GENETICS, 2024, 20 (06):
[45] Kabuki Syndrome and Autism Spectrum Disorder
Dineen, Peter
Chakraborty, Rashmi
[J]. EUROPEAN CHILD & ADOLESCENT PSYCHIATRY, 2011, 20 (01) : S140 - S141
[46] Kabuki syndrome. A clinical approach
Fierro, Fidel Asensio
Farpon, Ruben Cabanillas
Bernardo-Cofino, Joaquin
[J]. MEDICINA CLINICA, 2022, 158 (04): : 194 - 194
[47] Cerebral Lymphoproliferation in a Patient with Kabuki Syndrome
Marzollo, Antonio
Colavito, Davide
Sartori, Stefano
Fanelli, Giuseppe Nicolo
Putti, Maria Caterina
[J]. JOURNAL OF CLINICAL IMMUNOLOGY, 2018, 38 (04) : 475 - 477
[48] Dilated vein of Galen in Kabuki syndrome
Sanchez-Carpintero, Rocio
Herranz, Ana
Reynoso, Cesar
Luis Zubieta, Jose
[J]. BRAIN & DEVELOPMENT, 2012, 34 (01): : 76 - 79
[49] Congenital heart defects in Kabuki syndrome
Yuan, Shi-Min
[J]. CARDIOLOGY JOURNAL, 2013, 20 (02) : 121 - 124
[50] Craniosynostosis in Kabuki syndrome Case report
Martinez-Lage, Juan F.
Felipe-Murcia, Matias
Guillen Navarro, Encarna
Almagro, Maria-Jose
Lopez Lopez-Guerrero, Antonio
Perez-Espejo, Miguel A.
[J]. JOURNAL OF NEUROSURGERY-PEDIATRICS, 2010, 6 (02) : 198 - 201

← 1 2 3 4 5 →