Results 61 to 70 of about 2,580 (168)

Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: Case report

BMC Medical Genetics, 2005
Background Since it's recognition in 1981, a more complete phenotype of Kabuki syndrome is becoming evident as additional cases are identified. Congenital heart defects and a number of visceral abnormalities have been added to the typical dysmorphic ...
deMello Daphne E, Mavers Melissa, Bogucki Brian, Shah Maulik, Knutsen Alan   +4 more
doaj   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Best-like vitelliform maculopathy in a child with Kabuki syndrome: A novel association

Indian Journal of Ophthalmology. Case Reports
Kabuki syndrome (KS), also known as Niikawa–Kuroki syndrome, is a rare genetic disorder with an estimated incidence of 1 in 32,000 births, characterized by distinctive facial features, developmental delay, and multisystem involvement.
Boopathy Murugavel, Nikulaa Parachuri
doaj   +1 more source

Preverbal visual assessment for screening cerebral visual impairment: Diagnostic accuracy and clinical utility

Developmental Medicine &Child Neurology, Volume 68, Issue 5, Page 688-695, May 2026.
Abstract Aim To evaluate the relationship between Preverbal Visual Assessment (PreViAs) results and cerebral visual impairment (CVI) diagnosis. Method This single‐center retrospective chart review included children who completed a CVI interdisciplinary clinic or occupational therapy vision evaluation between May 2018 and May 2023 and had a completed ...
Karen L. Harpster, Terry L. Schwartz, Alaina Johnson, Reena Donofe, Li Lin, Melissa L. Rice   +5 more
wiley   +1 more source

Dysmorphic Syndromes and Learning Disabilities

Pediatric Neurology Briefs, 1997
Four cases of Kabuki make-up syndrome (KMS) from various ethnic groups in Vancouver, British Columbia, are reported from the Sunny Hill Health Centre for Children, Vancouver.
J Gordon Millichap
doaj   +1 more source

Paediatric‐onset autoimmune cytopenia: How can we reduce the long‐term mortality?

British Journal of Haematology, Volume 209, Issue 2, Page 825-829, August 2026.
Nathalie Aladjidi, Thierry Leblanc, Helder Fernandes, Capucine Picard, Jacinta Bustamante, Frédéric Rieux‐Laucat, Mathieu Fusaro, Maud Tusseau, Charlotte Durand‐Teyssier, Emma Cohendy, Jérôme Granel, Stéphane Ducassou, Agathe Escudier, Despina Moshous, Marc Michel, Bertrand Godeau, Sébastien Héritier, Mony Fahd, Brigitte Bader‐Meunier, Alain Fischer, Guy Leverger, All collaborators from the French Paediatric Haemato‐Immunologic CEREVANCE Network   +21 more
wiley   +1 more source

The Histone‐Lysine N‐Methyltransferase (KMT2) Family in Health and Disease

MedComm, Volume 7, Issue 4, April 2026.
This graphical abstract clarifies KMT2 family dysregulation and disease associations: its member mutations cause epigenetic imbalance and abnormal cell development; Menin/WDR5 inhibitors and other targeted therapies block aberrant epigenetic transcriptional programs, and combined synergistic therapies boost therapeutic efficacy.
Qiu Wang, Zunjie Bo, Ya Zhang, Yun Chen, Zhiyu Wang, Shuangmei Tong, Ajing Xu, Jian Zhang, Yan Liu   +8 more
wiley   +1 more source

Audiological Manifestations in Kabuki (Niikawa-Kuroki) Syndrome

Philippine Journal of Otolaryngology Head and Neck Surgery, 2011
Objective: To describe the audiological profile, clinical features and briefly summarize the speech and language development of a child with Kabuki syndrome (KS).
Celina Ann M. Tobias, Teresa Luisa Gloria-Cruz, Charlotte M. Chiong   +2 more
doaj   +1 more source

Novel Variants in KMT2C Further Support a Neurodevelopmental Disorder Distinct From Kleefstra and Kabuki Syndromes

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
Sedlackova et al. describe detailed phenotypes of three patients with novel variants in the KMT2C gene. After detailed phenotypic analysis, we found that our patients have phenotypes very similar to those previously described as KMT2C‐related Kleefstra syndrome 2, and thus further extend the list of KMT2C causal variants.
Lucie Sedláčková, Dana Šafka Brožková, Markéta Havlovicová, Petra Laššuthová   +3 more
wiley   +1 more source

Kabuki make-up syndrome Síndrome da maquiagem de kabuki

Acta Ortopédica Brasileira, 2002
The Kabuki Make-up Syndrome is a rare congenital anomaly, characterized by five fundamental features, the " Pentad of Niikawa": dysmorphic facies, skeletal anomalies; dermatoglyphic abnormalities, mild to moderate mental retardation, postnatal growth ...
Ana Paula Tedesco Gabrieli, Fernanda Velho Rovaris, Laura Elaine Bisol, Lívia Borges, Marja Mandelli Michelin, Louise Lovatto   +5 more
doaj   +1 more source