Abstract

In the last time due to the wide genetic methods of genetic mutation determination, a lot of rare syndromes were highlighted and described in detail so it could be made an anticipatory strategy for the child born with a known or even new genetic mutation. Many of those mutations are not inherited and not found in other family members so that it is important to elucidate for the child and family and for the future descendants the variety of evolution possibilities and to have in mind more medical scenarios after which the medical team can plan the interventions.

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