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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


SCImago Journal Rank (SJR) 2015: 0.210
Source Normalized Impact per Paper (SNIP) 2015: 0.280
Impact per Publication (IPP) 2015: 0.247

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2191-0367
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Adults with genetic syndromes

Jacqueline A. Noonan1, 2 / Michelle A. Grenier1, 2

1Division of Cardiology, Kentucky Children's Hospital, University of Kentucky, Lexington, KY, USA

2Department of Pediatric Cardiology, Cincinnati Children's Medical Center, Cincinnati, OH, USA

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

Citation Information: International Journal on Disability and Human Development. Volume 9, Issue 2-3, Pages 193–202, ISSN (Online) 2191-0367, ISSN (Print) 2191-1231, DOI: 10.1515/IJDHD.2010.027, November 2010

Publication History

Received:
2010-01-04
Accepted:
2010-02-12
Published Online:
2010-11-22

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

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