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Hindi Review Article, J Genet Disor Genet Rep Vol: 3 Issue: 1
Growth Abnormalities Resulting in Short Stature in Genetic Syndromes
| Lena Dain* and Stavit A Shalev | |
| Haemek Genetic Institute, Haemek Medical Center, Afula, Israel | |
| Corresponding author : Dr. Lena Dain Haemek Genetic Institute, Haemek Medical Center, 21 Itzhak Rabin St., Afula 18101, Israel Tel: +972-506265842; Fax: +972-46494425 E-mail: lena2303@gmail.com |
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| Received: June 02, 2013 Accepted: January 08, 2014 Published: January 15, 2014 | |
| Citation: Dain L,Shalev SA (2014) Growth Abnormalities Resulting in Short Stature in Genetic Syndromes. J Genet Disor Genet Rep 3:1. doi:10.4172/2327-5790.1000111 |
Abstract
Growth Abnormalities Resulting in Short Stature in Genetic Syndromes
Short stature is a common problem in children and adolescents, and has been reported in a wide variety of genetic syndromes. In this article, we provide an overview of clinical features typical to handful genetic syndromes in which short stature is a cardinal feature, and for which there is a well based core data. These disorders include chromosomal abnormalities such as Down and Turner syndromes, monogenic syndromes (Noonan syndrome and other selected syndromes caused by RAS/MAPK pathway genes, Cornelia de Lange syndrome and SHOX gene abnormalities) and epigenetic mechanism abnormalities, including Silver-Russell syndrome and Prader-Willi syndrome.
