title: Phenotypic spectrum and management issues in Kabuki syndrome.
abstract: OBJECTIVE
  To report the phenotypic spectrum and management issues of children with Kabuki syndrome (Niikawa-Kuroki syndrome) from North America.
  
  
  METHODS
  A case series of children (n = 18) with clinical findings of Kabuki syndrome.
  
  
  METHODS
  Medical genetics clinics in Washington, Alaska, and Arizona.
  
  
  RESULTS
  Most patients had postnatal growth retardation, and all had developmental delay and hypotonia. Feeding difficulties, with or without cleft palate, were common; 5 patients required gastrostomy tube placement. Developmental quotients/IQs in all but 2 were 60 or less. Seizures were seen in less than half of the patients, but ophthalmologic and otologic problems were common, particularly recurrent otitis media. Congenital heart defects were present in 7 (39%); 3 patients underwent repair of coarctation of the aorta. Other features included urinary tract anomalies, malabsorption, joint hypermobility and dislocation, congenital hypothyroidism, idiopathic thrombocytopenic purpura, and in one patient, autoimmune hemolytic anemia and hypogammaglobulinemia. All patients had negative family histories for Kabuki syndrome.
  
  
  CONCLUSIONS
  Kabuki syndrome is a mental retardation-malformation syndrome affecting multiple organ systems, with a broad spectrum of neuromuscular dysfunction and mental ability. Given that 18 ethnically diverse patients were identified from 2 genetics programs, it appears that this syndrome is more common in North American non-Japanese patients than previously appreciated.
authors: Division of Medical Genetics, Children's Hospital and Regional Medical Center, and University of Washington School of Medicine, Seattle, Washington, USA.
authors: H
authors: H
authors: Kawame
authors: M C
authors: MC
authors: Hannibal
authors: L
authors: L
authors: Hudgins
authors: R A
authors: RA
authors: Pagon
mesh_terms: D000015:Abnormalities, Multiple / Q000145:classification / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000145:classification / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D005145:Face / Q000002:abnormalities*; D005260:Female; D005774:Gastrostomy; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000145:classification / Q000235:genetics*; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D010641:Phenotype; D013577:Syndrome; D014481:United States