title: Anesthesia management in Kabuki make-up syndrome.
abstract: Kabuki make-up syndrome KMS is a rare condition with a number of characteristic congenital abnormalities. The syndrome is characterized by peculiar facial appearance resembling the make-up of actors in Kabuki, the traditional Japanese theater, skeletal anomalies, dermatoglyphic abnormalities, postnatal growth deficiency, and mental retardation. These are rare reports of central nervous system dysfunctions, other than mental retardation, and no previously described congenital talipes calcaneo-valgus in this syndrome. We report the case of a 22-month-old girl having Kabuki make-up. At presentation, she had an adenoid hypertrophy and a history of recurrent otitis media. She had also delay in motor development, and a postnatal growth deficiency. The variable phenotypic expression is a well-known characteristic of the syndrome. For that reason, we should perform careful morphologic examination in every patient and their parents, and use flexotype laryngoscope Heine, Germany to visualize vocal cord in case of difficult intubation. At preoperative examination, as clinicians, we must be careful regarding patient morphology. Congenital heart defects and epilepsy are important for anesthesia management in KMS.
authors.affiliation: Department of Anesthesiology and Reanimation, The School of Medicine, Kocatepe University, Afyon, Turkey. rsivaci@aku.edu.tr
authors.forename: Remziye
authors.initials: R
authors.lastname: Sivaci
authors.forename: Orhan K
authors.initials: OK
authors.lastname: Kahveci
authors.forename: Muge
authors.initials: M
authors.lastname: Celik
authors.forename: Ali
authors.initials: A
authors.lastname: Altuntas
authors.forename: Mustafa
authors.initials: M
authors.lastname: Solak
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000771:Anesthesia, Intravenous / Q000379:methods*; D001004:Anus Diseases / Q000151:congenital / Q000601:surgery; D005147:Facial Bones / Q000002:abnormalities* / Q000601:surgery; D005149:Facial Expression; D005260:Female; D005336:Fiber Optic Technology; D005500:Follow-Up Studies; D006130:Growth Disorders / Q000175:diagnosis*; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000601:surgery; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis*; D007828:Laryngoscopy / Q000379:methods; D018570:Risk Assessment; D013577:Syndrome