Results 11 to 20 of about 2,580 (168)

KABUKI SYNDROME [PDF]

Romanian Journal of Pediatrics, 2008
Kabuki (Niikawa-Kuroki) syndrome (KS) is a condition of unknown etiology, characterized by a pentad of cardinal signs and symptoms: mental retardation, peculiar facies oriental-like, dermatoglyphic abnormalities including persistent finger and toe pads,
Doina Maria Ioan, Andrei Zamfirescu
doaj   +4 more sources

Anesthetic care of a child with Kabuki syndrome [PDF]

Pediatric Anesthesia and Critical Care Journal (PACCJ), 2023
Kabuki syndrome (KS) is a rare genetic disorder associ- ated with unique facial features, developmental delay, and multiple end-organ abnormalities. Specific pheno- typic findings include long palpebral fissures, eversion of the lateral third of the ...
I. Elmitwalli, R. Banoub, R. Heng, J. D. Tobias   +3 more
doaj   +1 more source

Multidisciplinary clinical and translational approach for optimizing management for complex and rare conditions using Kabuki syndrome as example

Rare, 2023
Rare diseases are a group of complex conditions with challenging diagnosis and management. One example is Kabuki Syndrome (KS), a rare and complex genetic condition necessitating multidisciplinary specialized care.
Leen Khalife, Rachel Gottlieb, Tara Daly, Xiaoting Ma, Asma Rashid, Bridget Funk, Emanuela Gussoni, Christina Hung, Olaf Bodamer   +8 more
doaj   +1 more source

Report of a new mutation in Colombia in a patient with Kabuki Syndrome

Iatreia, 2020
Introduction: Kabuki Syndrome is a pediatric congenital disorder of genetic origin. These patients present morphological abnormalities such as cleft palate, prominent eyeballs, persistence of fingerpads, and vertebral abnormalities.
Hernández Woodbine, María José, del Castillo Rix, Daniel Sebastián, Baquero Mejía, Ingrid Carolina   +2 more
doaj   +1 more source

[Kabuki syndrome].

Anales de pediatria (Barcelona, Spain : 2003), 2012
Kabuki syndrome (OMIM: #147 920) presents as large palpebral fissures with eversion of the lateral third of the lower eyelids, depressed nasal bridge, arched eyebrows, dysplastic ears and in most cases, with mental retardation. Patients have minor and major abnormalities in different systems.
J L, Suarez Guerrero, A A, Ordónez Suarez, G A, Contreras García   +2 more
  +5 more sources

A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report

BMC Medical Genetics, 2018
Background Kabuki syndrome is characterized by distinctive facial features and varying degrees of growth retardation. It leads to malformations in skeletal, urogenital and cardiac structures; moreover, endocrine conditions such as premature thelarche ...
Jung-Eun Moon, Su-Jeong Lee, Cheol Woo Ko   +2 more
doaj   +1 more source

A case of Kabuki syndrome with precocious puberty and short stature due to novel KDM6A splice-site mutation [PDF]

Jichu yixue yu linchuang, 2021
Objective To investigate the pathogenic gene mutations and clinical characteristics of type 2 Kabuki syndrome by analyzing a patient with novel splicing KDM6A gene mutation.
ZHAO Ya-ling, LI Shu-ying, WANG Xi, NIE Min, WU Xue-yan, MAO Jiang-feng
doaj  

The strong association of left-side heart anomalies with Kabuki syndrome [PDF]

Korean Journal of Pediatrics, 2015
PurposeKabuki syndrome is a multiple congenital malformation syndrome, with characteristic facial features, mental retardation, and skeletal and congenital heart anomalies.
Ja Kyoung Yoon, Kyung Jin Ahn, Bo Sang Kwon, Gi Beom Kim, Eun Jung Bae, Chung Il Noh, Jung Min Ko   +6 more
doaj   +1 more source

BAC-FISH refutes report of an 8p22–8p23.1 inversion or duplication in 8 patients with Kabuki syndrome

BMC Medical Genetics, 2006
Background Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome. The syndrome is characterized by varying degrees of mental retardation, postnatal growth retardation, distinct facial characteristics resembling the Kabuki actor's ...
Hobart Holly H, Morris Colleen A, Kimberley Kendra W   +2 more
doaj   +1 more source

Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation

Italian Journal of Pediatrics, 2020
Background Persistent neonatal hypoglycemia, owing to the possibility of severe neurodevelopmental consequences, is a leading cause of neonatal care admission.
Ettore Piro, Ingrid Anne Mandy Schierz, Vincenzo Antona, Maria Pia Pappalardo, Mario Giuffrè, Gregorio Serra, Giovanni Corsello   +6 more
doaj   +1 more source