Proteus syndrome and pregnancy

Journal of Clinical Medicine of Kazakhstan, 2017

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DOI 10.23950/1812-2892-jcmk-00506
Data confidence 70 medium
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Abstract

This paper describes a clinical case of patients with Proteus syndrome. Proteus syndrome is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features. The developmental abnormalities associated with this syndrome can lead to unusual look and overgrowth of different parts of the body. The growth is not symmetric, which means that the parallel parts of the body are not of the corresponding length of the other. The syndrome is caused due to mutations or mosaic changes in a gene known as AKT1. It is believed that such genetic errors occur shortly after conception. The different bodily defects can be noticed and diagnosed during later toddler-hood or early childhood. The accompanying symptoms begin to appear at this age, which is quite late. It is important to realize that each person with Proteus syndrome will have different medical needs that need individualized treatment.