Phenotypic spectrum and management issues in Kabuki syndrome.
Title | Phenotypic spectrum and management issues in Kabuki syndrome. |
Publication Type | Journal Article |
Year of Publication | 1999 |
Authors | Kawame H, Hannibal MC, Hudgins L, Pagon RA |
Journal | The Journal of pediatrics |
Volume | 134 |
Issue | 4 |
Pagination | 480-5 |
Date Published | 1999 Apr |
Abstract | OBJECTIVE: To report the phenotypic spectrum and management issues of children with Kabuki syndrome (Niikawa-Kuroki syndrome) from North America. DESIGN: A case series of children (n = 18) with clinical findings of Kabuki syndrome. SETTING: 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 palatei, 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 otitisi media. Congenitali heart defects were present in 7 (39%); 3 patients underwent repair of coarctationi of the aortai. Other features included urinary tract anomalies, malabsorption, joint hypermobility and dislocation, congenital hypothyroidism, idiopathici thrombocytopenic purpurai, and in one patient, autoimmune hemolytic anemiai and hypogammaglobulinemiai. 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. |
Alternate Journal | J. Pediatr. |
Citation Key | 10190924 |
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