Results 31 to 40 of about 2,580 (168)
C.E. Credit. Kabuki Syndrome and Its Oral Manifestations: A Case Report
Journal of the California Dental Association, 2023 Background Kabuki Syndrome is a rare genetic alteration of autosomal origin, known for five characteristics called Niikawa’s Pentad: skeletal abnormalities, short stature, mild to moderate intellectual and developmental disabilities, facial dysmorphism ...
Amanda A. Marques +3 more
doaj +1 more source
Malang Neurology Journal, 2022 Background: Kabuki syndrome is a rare disease. In 2018, a global consensus on diagnostic criteria for Kabuki syndrome (KS) was published, diagnosing KS both with and without molecular genetic confirmation.
Marina Zhitomirskaya +3 more
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Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome.
PLoS Biology, 2019 Kabuki Syndrome patients have a spectrum of congenital disorders, including congenital heart defects, the primary determinant of mortality. Seventy percent of Kabuki Syndrome patients have mutations in the histone methyl-transferase KMT2D.
Maria de Los Angeles Serrano +4 more
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Jornal de Pediatria, 1996 The authors present an original case, the first in Brazil and Latin America, of the Kabuki make-up syndrome. To diagnose KMS, the authors point out the importance of the "Pentad of Niikawa", a term created by them to indicate the five basic features of the syndrome.
J C, de Souza +2 more
openaire +2 more sources
Kabuki Make-up Syndrome – A Case Report with Electromyographic study [PDF]
Journal of Clinical and Diagnostic Research, 2014 Kabuki make-up syndrome (KMS), also called Niikawa-Kuroki syndrome reported in 1981, is a rare congenital disorder of unknown aetiology. It is know to occur in many other ethnic groups, though initially described in Japan.
Atul Sattur +3 more
doaj +1 more source
Kabuki Syndrome with Cleft Palate [PDF]
Archives of Plastic Surgery, 2016 Kabuki syndrome is a rare condition characterized by multiple congenital anomalies and intellectual disabilities [1]. The etiology of Kabuki syndrome is unclear, but the syndrome is known to have an autosomal dominant mode of inheritance. Furthermore, mutations in the MLL2 and KDM6A genes have recently been suggested as causes of this syndrome [2]. The
Joo Myong Paik, So Young Lim
doaj +3 more sources
Frontiers in Genetics, 2021 Kabuki syndrome is a rare multiple anomalies syndrome associated with mutations in KMT2D or KDM6A. It is characterized by infantile hypotonia, developmental delay and/or intellectual disability, long palpebral fissures with everted lateral third of the ...
Rishika P. Sakaria +10 more
doaj +1 more source
Epileptic Disorders, EarlyView.Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin +2 more
wiley +1 more source
Clinical Genetics, EarlyView.This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska +3 more
wiley +1 more source
The Case of the Congenital Cataract Development in a Child with Kabuki’s Makeup Syndrome
Oftalʹmologiâ, 2019 Kabuki makeup syndrome is a rare genetic disease. The features of the child’s face resemble the mask of the actors of the Japanese Kabuki theater. Accompanied by multiple anomalies of various organs and systems.
T. B. Kruglova, N. S. Egiyan
doaj +1 more source