title: [Special anesthesiological aspects in patients with Niikawa-Kuroki ("Kabuki Make-Up") syndrome].
abstract: The Niikawa-Kuroki ("Kabuki Make-up") syndrome (NKS) is a rare disease with a characteristic array of multiple congenital anomalies. The syndrome is characterised by distinct craniofacial dysmorphias, moderate mental retardation, skeletal abnormalities, cardiovascular and urogenital disorders, growth retardation and skeletal muscle abnormalities. The inheritance of NKS is not completely clear. However, the available data are compatible with an autosomal dominant mutation with variable expressivity. There is no specific treatment for NKS. The patients require intensive support for the development of their mental and physical capabilities. Furthermore, therapy includes operative correction of the multiple anomalies. The risk of anaesthesia is increased in these patients because of a possible difficult airway, cardiovascular and urogenital diseases, and abnormalities of the skeletal muscles. Special problems associated with the anaesthetic management in patients with NKS are discussed in this case report.
authors.affiliation: Abteilung für Anästhesiologie, Universitäts-Krankenhaus Eppendorf, Hamburg.
authors.forename: F
authors.initials: F
authors.lastname: Wappler
authors.forename: T
authors.initials: T
authors.lastname: Standl
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000601:surgery; D000293:Adolescent; D000766:Anesthesia, Dental; D000768:Anesthesia, General; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000601:surgery; D006801:Humans; D007442:Intubation, Intratracheal; D008297:Male; D010482:Periapical Abscess / Q000601:surgery