Kabuki syndrome is characterized by long palpebral fissures, large ears, a depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. There have been few prior detailed descriptions of strabismus or stereopsis in these patients. We report a patient with Kabuki syndrome who showed small-angle strabismus and poor stereopsis. This case illustrates the need for patients with a diagnosis of Kabuki syndrome to have an ophthalmologic evaluation. Strabismus associated with Kabuki syndrome may have a small angle that can be easily overlooked.
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http://dx.doi.org/10.3341/kjo.2011.25.2.136 | DOI Listing |
BMJ Case Rep
December 2024
Facultad de Medicina, Universidad Anahuac Cancun, Cancún, Quintana Roo, Mexico
This report details the case of a preadolescent female patient diagnosed with Kabuki syndrome, a rare genetic disorder characterised by distinctive facial features, growth delay and cognitive impairment. The patient's medical history includes perinatal complications, alongside challenges in developmental milestones, feeding and psychomotor skills since infancy, prompting further investigation. Genetic testing confirmed the diagnosis, revealing a full deletion of The patient underwent a multidisciplinary approach, addressing various aspects of her condition, which resulted in significant improvements in several areas.
View Article and Find Full Text PDFOphthalmic Plast Reconstr Surg
December 2024
Department of Ophthalmology, Bascom Palmer Eye Institute, Miami, Florida, U.S.A.
Kabuki syndrome is a rare genetic disease with multisystemic effects including ocular manifestations. The authors report a patient with known Kabuki syndrome who presented with bilateral euryblepharon, bilateral ptosis, OD hypotropia, and blue sclera. A bilateral lateral tarsal strip procedure was performed followed by a left frontalis sling with a silicone implant and a right external levator advancement with success.
View Article and Find Full Text PDFBrief Bioinform
November 2024
Division of Developmental Biology & Medicine, Faculty of Biology, Medicine, and Health, School of Biological Sciences, The University of Manchester, Manchester, UK.
Complex direct and indirect relationships between multiple variables, termed higher order interactions (HOIs), are characteristics of all natural systems. Traditional differential and network analyses fail to account for the omic datasets richness and miss HOIs. We investigated peripheral blood DNA methylation data from Kabuki syndrome type 1 (KS1) and control individuals, identified 2,002 differentially methylated points (DMPs), and inferred 17 differentially methylated regions, which represent only 189 DMPs.
View Article and Find Full Text PDFActa Neurol Belg
December 2024
Institute of Neuropathology, University Hospital Zurich, Zurich, Switzerland.
J Child Neurol
December 2024
Department of Clinical and Experimental Medicine, University Hospital "Policlinico-San Marco of Catania, Catania, Italy.
Kabuki syndrome is a rare congenital disorder characterized by a distinctive combination of craniofacial features, developmental anomalies, and intellectual disabilities. This study aims to provide a comprehensive exploration of Kabuki syndrome through a meticulous case series analysis focusing on its clinical features and genetic underpinnings. A cohort of 9 Kabuki syndrome patients was identified through a retrospective examination of medical records spanning from 1996 to 2022.
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