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International Journal on Disability and Human Development

Official journal of the the National Institute of Child Health and Human Development in Israel

Editor-in-Chief: Merrick, Joav

Editorial Board Member: Brooks, Tony / Carmeli, BPT, Eliezer / Caron, MPH, Rosemary M. / Davidson, Philip W / Galil, Ahron / Heller, Tamar / Huff, Marlene B. / Janicki, Matthew P. / Kerr, Mike / Levy, Howard B / Lindström, Bengt / Morad, Mohammed / Omar, Hatim A. / Postolache, Teodor T. / Prasher, Vee / Shek, Daniel T.L. / Sher, Leo / Stratakis, Constantine A

4 Issues per year


CiteScore 2016: 0.25

SCImago Journal Rank (SJR) 2016: 0.179
Source Normalized Impact per Paper (SNIP) 2016: 0.234

Online
ISSN
2191-0367
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Volume 9, Issue 2-3 (Nov 2010)

Issues

Adults with genetic syndromes

Jacqueline A. Noonan
  • Division of Cardiology, Kentucky Children's Hospital, University of Kentucky, Lexington, KY, USA
  • Department of Pediatric Cardiology, Cincinnati Children's Medical Center, Cincinnati, OH, USA
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Michelle A. Grenier
  • Division of Cardiology, Kentucky Children's Hospital, University of Kentucky, Lexington, KY, USA
  • Department of Pediatric Cardiology, Cincinnati Children's Medical Center, Cincinnati, OH, USA
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2010-11-22 | DOI: https://doi.org/10.1515/IJDHD.2010.027

Abstract

As patients with genetic syndromes age new problems can arise. This review will consider six of the more common genetic syndromes likely to survive to adulthood and suggest appropriate management strategies. In this review, we will consider multiple malformation syndromes that are relatively common, likely to survive to adulthood and able to live at least partly independently. We will limit our discussion to four chromosomal malformations and two dominantly inherited disorders due to gene mutations.

Keywords: adolescence; childhood; genetics; syndromes; transition

About the article

Corresponding author: Jacqueline A. Noonan, MD, Professor Emeriti, Division of Cardiology, Department of Pediatrics, KY Children's Hospital, University of Kentucky, 800 Rose Street, MN50, Lexington, KY 40536, USA


Received: 2010-01-04

Accepted: 2010-02-12

Published Online: 2010-11-22

Published in Print: 2010-11-01


Citation Information: International Journal on Disability and Human Development, ISSN (Online) 2191-0367, ISSN (Print) 2191-1231, DOI: https://doi.org/10.1515/IJDHD.2010.027.

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