title: Kabuki syndrome: a challenge for the primary care provider.
abstract: OBJECTIVE
  Using a case format, the pathogenesis, clinical manifestations, diagnosis, and management of Kabuki syndrome, a rare genetic condition, is presented. Nurse practitioners (NPs) may encounter patients presenting to the primary care setting with this rare syndrome; understanding this condition may help them to better care for these patients.
  
  
  METHODS
  A case presentation of a pediatric patient supported by the currently available literature from multiple health and medial databases.
  
  
  CONCLUSIONS
  Kabuki syndrome is a rare phenomenon that occurs in 1 in every 32,000 births. A diagnosis of this syndrome may take several months to years because there are no specific tests, and the physical features may be subtle at birth, becoming more pronounced over a period of time during childhood. The degree of disease severity varies widely.
  
  
  CONCLUSIONS
  Understanding this syndrome increases the NP's ability to provide primary care to affected patients and their families. Management of this condition requires the NP take on the role of gatekeeper, so timely coordination of specialty or subspecialty services is provided. Special consideration should be given to monitoring caregiver fatigue and impact on siblings so family members can be directed to the appropriate support services.
authors.affiliation: (Pediatric Clinical Education Coordinator), Sunrise Children's Hospital, Las Vegas, Nevada, (Associate Professor & Chair of the Physiologic Department), (Instructor), School of Nursing, University of Nevada, Las Vegas, Nevada.
authors.forename: Bonnie
authors.initials: B
authors.lastname: Crane
authors.forename: Patricia T
authors.initials: PT
authors.lastname: Alpert
authors.forename: Dianne
authors.initials: D
authors.lastname: Cyrkiel
authors.forename: Alan
authors.initials: A
authors.lastname: Jauregui
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005260:Female; D006402:Hematologic Diseases / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy; D006801:Humans; D010375:Pedigree; D011320:Primary Health Care; D015837:Vestibular Diseases / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy
keywords: Developmental delay; genetics; primary care; syndromes