title: Craniosynostosis in Kabuki syndrome.
abstract: Niikawa-Kuroki, or Kabuki syndrome (KS), is characterized by distinctive facial features, skeletal anomalies, persisting fingertip pads with dermatoglyphic abnormalities, short stature, and mental retardation. Neurological manifestations and CNS anomalies have been described in some patients with this condition. However, craniosynostosis has been documented in only 4 patients with KS who did not undergo operations. The authors report a case of KS with unicoronal synostosis that constitutes the first documented instance of a patient with this syndrome submitted to surgery. Previous reported instances of craniosynostosis occurring in KS are briefly reviewed. Although rarely documented, craniosynostosis might represent a relatively frequent feature of this syndrome. Kabuki syndrome should be considered at the time of evaluating children with craniosynostosis. The diagnosis of KS can be suspected from the patients' characteristic facial features. Kabuki syndrome appears to be an underdiagnosed condition in the craniosynostosis population. Given that most patients with this syndrome suffer from only mild to moderate mental retardation, surgical correction can be considered in instances of KS with craniosynostosis.
authors.affiliation: Regional Service of Neurosurgery, Virgen de la Arrixaca University Hospital, Murcia, Spain. juanf.martinezlage@cablemurcia.com
authors.forename: Juan F
authors.initials: JF
authors.lastname: Martínez-Lage
authors.forename: Matías
authors.initials: M
authors.lastname: Felipe-Murcia
authors.forename: Encarna Guillén
authors.initials: EG
authors.lastname: Navarro
authors.forename: María-José
authors.initials: MJ
authors.lastname: Almagro
authors.forename: Antonio López
authors.initials: AL
authors.lastname: López-Guerrero
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Pérez-Espejo
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000601:surgery*; D002675:Child, Preschool; D015897:Comorbidity; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000601:surgery*; D003398:Craniosynostoses / Q000175:diagnosis* / Q000601:surgery*; D003399:Craniotomy / Q000379:methods*; D002658:Developmental Disabilities / Q000175:diagnosis; D019066:Facies; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007091:Image Processing, Computer-Assisted; D021621:Imaging, Three-Dimensional; D007223:Infant; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000175:diagnosis* / Q000601:surgery*; D013577:Syndrome; D014057:Tomography, X-Ray Computed