title: Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation.
abstract: OBJECTIVE
  To describe the clinical findings of a patient with mosaic 45,X/47,XXX and aortic coarctation.
  
  
  METHODS
  Descriptive case study.
  
  
  METHODS
  Tertiary medical center.
  
  
  METHODS
  A 6-year-old girl with stigmata of Turner syndrome, aortic coarctation, patent ductus arteriosus, and a peculiar facial appearance.
  
  
  METHODS
  None.
  
  
  METHODS
  Cytogenetic analysis.
  
  
  RESULTS
  The patient manifested a characteristic Kabuki syndrome facial appearance with long palpebral fissures, everted lateral third of lower eyelids, arched eyebrows, a depressed nasal tip, large dysplastic ears and epicanthic folds. She had undergone cardiac surgery for treatment of aortic coarctation and patent ductus arteriosus. Cytogenetic analysis of the blood lymphocytes revealed a karyotype of mos 45,X,9ph [35 cells]/47,XXX,9ph [5 cells].
  
  
  CONCLUSIONS
  This is the first report of mosaic 45,X/47,XXX associated with Kabuki syndrome. We emphasize that Kabuki syndrome, a peculiar facial appearance and aortic coarctation, should be considered in girls with sex chromosome abnormalities.
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
authors.forename: Schu-Rern
authors.initials: SR
authors.lastname: Chern
authors.forename: Wayseen
authors.initials: W
authors.lastname: Wang
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001017:Aortic Coarctation / Q000150:complications* / Q000235:genetics*; D002648:Child; D004303:Dosage Compensation, Genetic / Q000235:genetics*; D005260:Female; D006801:Humans; D009030:Mosaicism; D012729:Sex Chromosome Aberrations / Q000145:classification*; D013577:Syndrome