The PDF file you selected should load here if your Web browser has a PDF reader plug-in installed (for example, a recent version of Adobe Acrobat Reader).
If you would like more information about how to print, save, and work with PDFs, Highwire Press provides a helpful Frequently Asked Questions about PDFs.
Alternatively, you can download the PDF file directly to your computer, from where it can be opened using a PDF reader. To download the PDF, click the Download link above.
Rett syndrome is a disorder of early brain development characterized by developmental regression and deceleration of brain growth after a period of relatively normal developmental course. It occurs predominantly in girls. Nearly all cases of Rett syndrome caused by mutation in the methyl CPG binding protein 2 or MECP2 gene. It is characterized by developmental regression of language and motor milestones and acquired microcephaly after 7-8 months. Hallmark of Rett syndrome is repetitive hand wringingmovement and loss of purposeful and spontaneous use of hands. These finding may not appear until 2-3 year of age. Here we report two case with this syndrome from two family that confirmed by molecular analysis.
MECP2 Gene, Rett Syndrome, Developmental Regression, Hand Wringing.