Results 1 to 10 of about 2,580 (168)

Case report: Macrophage activation syndrome in a patient with Kabuki syndrome [PDF]

Frontiers in Immunology
Macrophage activation syndrome (MAS), is a severe and fatal complication of various pediatric inflammatory disorders. Kabuki syndrome (KS), mainly caused by lysine methyltransferase 2D (KMT2D; OMIM 602113) variants, is a rare congenital disorder with ...
, Chong Yuming, Xia Zenan
exaly   +4 more sources

A certain set of signs that could be compatible with Kabuki syndrome: a case report of an Iranian girl and review of literature [PDF]

Journal of Medical Case Reports
Background Kabuki syndrome is a rare congenital disorder with multisystem involvement and distinctive craniofacial features. While mutations in KMT2D and KDM6A are commonly associated, approximately 20–25% of patient cases lack molecular confirmation and
Fatemeh Owlia, Maryam Irannezhad, Zahra Bahrololoomi, Shima Mosallaeipour   +3 more
doaj   +2 more sources

Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review

Clinics and Practice, 2016
Kabuki syndrome is a clinically and genetically heterogeneous congenital malformation syndrome with protean clinical manifestations. This reflects the important epigenetic role in embryonic development of the two genes currently known to be associated ...
David Coman, Coman David
exaly   +3 more sources

Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome [PDF]

Diagnostics
Congenital heart defects (CHDs) affect a substantial proportion of patients with Kabuki syndrome. However, the prevalence and type of CHD and the genotype–phenotype correlations in Asian populations are not fully elucidated.
Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin   +9 more
doaj   +2 more sources

When Rarity Hits Twice: Hemophagocytic Lymphohistiocytosis in Kabuki Syndrome—A Case Report From Palestine [PDF]

Clinical Case Reports
Clinicians should maintain a high index of suspicion for Hemophagocytic Lymphohistiocytosis in Kabuki syndrome patients who present with persistent fever, cytopenias, and organomegaly.
Lilyan Jarrar, Raya Fuqha, Ahmad Mashni, Mohammad Hamdan, Sameer Alomari, Mohammad Ataya, Yazan Abed, Laith Abed   +7 more
doaj   +2 more sources

Case report: Kabuki syndrome and persistent hypoglycemia in neonates [PDF]

Journal of Family Medicine and Primary Care
The Kabuki syndrome (KS) is a rare congenital disease that has two different types, KS1 and KS2, with variant in epigenetic gene KMT2D and KDM6A, respectively.
Osama Y Safdar, Miral M Abddulghfar, Renad N Saaty, Zahrah Bernawi, Reem Babteen, Osama M Felemban   +5 more
doaj   +2 more sources

Type A Aortic Dissection in a 24-Year-Old Patient With Kabuki Syndrome [PDF]

JACC: Case Reports
Our case report documents the first type A aortic dissection in a patient with Kabuki syndrome (KS) and emphasize the need for intensive cardiovascular risk monitoring in patients with KS.
Nesar A. Hasami, MD, Kinsing Ko, MD, Marlies J.E. Kempers, MD, PhD, Roland R.J. van Kimmenade, MD, PhD, Guillaume S.C. Geuzebroek, MD, PhD   +4 more
doaj   +2 more sources

From Genotype to Phenotype—A Review of Kabuki Syndrome [PDF]

Genes, 2022
Margaret Adam, Olaf Bodamer, Kelly Barry   +2 more
exaly   +2 more sources

Xp11.3 microdeletion causing Norrie disease and X-linked Kabuki syndrome

American Journal of Ophthalmology Case Reports, 2023
Purpose: To describe a novel case of Norrie disease and X-linked Kabuki syndrome caused by a microdeletion encompassing multiple genes on the X chromosome.
Mahsaw Mansoor, Razek Georges Coussa, Margaret R. Strampe, Scott A. Larson, Jonathan F. Russell   +4 more
doaj   +1 more source

MOLECULAR-GENETIC ASPECTS OF KABUKI MAKEUP SYNDROME. Review

Медична наука України, 2021
Relevance. Kabuki Makeup Syndrome (KS) is a rare monogenic genetic disease characterized by multiple malformations. The phenotype includes specific facial features, skeletal and dermatoglyphic abnormalities, mental retardation, short stature.
I.V. Lastivka, V.V. Antsupva, A.H. Babintseva, M.D. Unhurian, I.A. Ushko   +4 more
doaj   +1 more source