Kabuki syndrome (Kabuki make 灜爊drome, Niikawa–Kuroki syndrome) is a multiple malformation syndrome characterized by distinctive facial features (long palpebral fissures; eversion of the lower lateral eyelid; arched eyebrows with sparse or dispersed lateral one‐third; depressed nasal tip; and large...
Kabuki syndrome (KS).Neither of them had typical facial features of KS during the neonatal period,but poor response,abnormal appearance and multiple organ dysplasia were observed in both.Case 1 was lost to follow up after discharge,while typical KS facial features were gradually appeared in C...
Kabuki syndrome (KS) (Kabuki make-up syndrome, Niikawa–Kuroki syndrome) is a multiple malformation/mental retardation syndrome that was described initially in Japan but is now known to occur in many other ethnic groups. It is characterized by distinctive facial features (eversion of the lower la...
Twitter Google Share on Facebook kabuki Medical Encyclopedia Wikipedia Related to kabuki:Kabuki syndrome Ka·bu·ki (kə-bo͞o′kē) n. A type of popular Japanese drama, evolved from the older Noh theater, in which elaborately costumed performers, nowadays men only, use stylized movements, ...
陈小泉(浙江大学医学院附属儿童医院心内科,浙江杭州310003)AdvanceintheDiagnosisandTreatmentofKabukiSyndromeCHENXiao—quan(DepartmentofCardiology,AfiliatedChildrenHospitalofZhejiangUniversityMed--icalCollege,Hangzhou310003,China)Abstract:Kabukisyndrome(KS)ischaracterizedbytypicalfacialfeatures,elongatedeyelidswithever-sionin...
ObjectiveTo summarize the clinical features and genetic diagnosis of Kabuki syndrome. MethodsThe clinical data of Kabuki syndrome in 2 children were retrospectively analyzed. ResultsBoth of them were male and over 1 year old. They had special facial features and febrile convulsion. Gene detection indi...
Both of them were male and over 1 year old. They had special facial features and febrile convulsion. Gene detection indicated that both of them had mutation in KMT2D (or MLL2) gene, but the clinical phenotypes were different. Conclusion Children with clinically suspected Kabuki syndrome can...
Kabuki syndrome is a rare genetic disorder characterized by distinct dysmorphic facial features, intellectual disability, and multiple developmental abnormalities. Despite more than 350 documented cases, the oro-dental spectrum associated with kabuki syndrome and expression of KMT2D (histone-lysine N-...
The Kabuki syndrome is a well-established pattern of human malformation with readily recognizable features, however the diagnosis is rarely made in the newborn period. The purpose of this study was to determine if there exists a neonatal phenotype for this disorder. We ascertained 16 infants evalua...
Kabuki syndrome (KS) is a congenital craniofacial disorder resulting from mutations in the KMT2D histone methylase (KS1) or the UTX histone demethylase (KS2). With small cohorts of KS2 patients, it is not clear whether differences exist in clinical manifestations relative to KS1. We mutated ...