遗传疾病和遗传报告杂志

Growth Abnormalities Resulting in Short Stature in Genetic Syndromes

Lena Dain1 and Stavit A Shalev

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.