論文

査読有り 国際誌
2014年11月

Combination of Miller-Dieker syndrome and VACTERL association causes extremely severe clinical presentation.

European journal of pediatrics
  • Hiroko Ueda
  • ,
  • Tokio Sugiura
  • ,
  • Satoru Takeshita
  • ,
  • Koichi Ito
  • ,
  • Hiroki Kakita
  • ,
  • Rika Nagasaki
  • ,
  • Kenji Kurosawa
  • ,
  • Shinji Saitoh

173
11
開始ページ
1541
終了ページ
4
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1007/s00431-013-2099-z
出版者・発行元
SPRINGER

UNLABELLED: We report a Japanese boy, who showed overlapping clinical features of Miller-Dieker syndrome (lissencephaly and facial dysmorphism) and vertebral defect, anal atresia, cardiac malformation and limb anomalies (VACTERL) association. The overall clinical presentation was much more severe than that normally associated with each disorder, and the infant died on day 100 of life despite aggressive therapy. Fluorescence in situ hybridization using a commercially available LIS1 probe failed to detect a deletion, but chromosomal microarray analysis detected a 2.50-Mb microdeletion in 17p13.3 which involved partially the LIS1 gene, and thus was compatible with Miller-Dieker syndrome. It may represent an example of a combination of two congenital disorders with blended phenotypes explaining unexpectedly severe phenotypes occurring with known chromosomal rearrangements. CONCLUSION: We report the first case of a combination of Miller-Dieker syndrome and VACTERL association with an unusually severe phenotype.

Web of Science ® 被引用回数 : 3

リンク情報
DOI
https://doi.org/10.1007/s00431-013-2099-z
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/23933666
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000343811600020&DestApp=WOS_CPL

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