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CHARALAMPOS

Thessaloniki, Greece

Charalampos is the second child of the family and was born on April 23, 2015, by cesarean section at 38 weeks and 2 days. At 12 months old we visited a developmental specialist as he had not stood up yet and did not say enough words.  He was found to have trunk hypotonia and limb hypertension.  We started physiotherapy and he finally walked at 19 months.  At 24 months we visited an ophthalmologist who told us that he has 15 degrees of myopia in both eyes.  We started speech therapy and occupational therapy.  When he started talking and wearing his glasses, he made some improvements.  Then we decided to do a genetic test since no one in our family environment has such a large degree of myopia.  The result of our test showed that he has DeSanto-Shinawi Syndrome. Charalampos was diagnosed in April 2020, aged 5 years. Charalampos is the first (and so far only) child diagnosed with DESSH in Greece. He is very sociable, overly so at times but is very popular at school with other children. He loves dancing, listening to music, singing, and watching videos on youtube.