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Phenotypic spectrum and management issues in Kabuki syndrome

Byline: Hiroshi Kawame, Mark C. Hannibal, Louanne Hudgins, Roberta A. Pagon Abbreviations: ITP, Idiopathic thrombocytopenic purpura; KS, Kabuki syndrome; VCFS, Velocardiofacial syndrome Abstract: Objective: To report the phenotypic spectrum and management issues of children with Kabuki syndrome (Nii... Full description

Journal Title: The Journal of Pediatrics 1999, Vol.134(4), pp.480-485
Main Author: Kawame, Hiroshi
Other Authors: Hannibal, Mark C , Hudgins, Louanne , Pagon, Roberta A
Format: Electronic Article Electronic Article
Language: English
Subjects:
ID: ISSN: 0022-3476 ; E-ISSN: 1097-6833 ; DOI: 10.1016/S0022-3476(99)70207-6
Link: https://www.sciencedirect.com/science/article/pii/S0022347699702076
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recordid: elsevier_sdoi_10_1016_S0022_3476_99_70207_6
title: Phenotypic spectrum and management issues in Kabuki syndrome
format: Article
creator:
  • Kawame, Hiroshi
  • Hannibal, Mark C
  • Hudgins, Louanne
  • Pagon, Roberta A
subjects:
  • Medicine
ispartof: The Journal of Pediatrics, 1999, Vol.134(4), pp.480-485
description: Byline: Hiroshi Kawame, Mark C. Hannibal, Louanne Hudgins, Roberta A. Pagon Abbreviations: ITP, Idiopathic thrombocytopenic purpura; KS, Kabuki syndrome; VCFS, Velocardiofacial syndrome 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 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. (J Pediatr 1999;134:480-5) Author Affiliation: Division of Medical Genetics, Children's Hospital and Regional Medical Center, and University of Washington School of Medicine, Seattle, Washington Article History: Received 27 July 1998; Revised 23 November 1998; Accepted 18 December 1998 Article Note: (footnote) [star] Reprint requests: Roberta A. Pagon, MD, Division of Medical Genetics CH-25, Children's Hospital & Medical Center, PO Box 5371, Seattle, WA 98105-0371., [star][star] 0022-3476/99/$8.00 + 0 9/21/96685
language: eng
source:
identifier: ISSN: 0022-3476 ; E-ISSN: 1097-6833 ; DOI: 10.1016/S0022-3476(99)70207-6
fulltext: fulltext
issn:
  • 0022-3476
  • 00223476
  • 1097-6833
  • 10976833
url: Link


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