Phelan McDermid Syndrome: An Incidental Prenatal Finding—Case Report

Phelan McDermid syndrome is a rare genetic disorder caused by a deletion or other structural change of the terminal end of chromosome 22. The genetic change is usually sporadic but might be inherited from a parent. It is related to a severe neurocognitive development delay included in the autism spectrum. The diagnosis is usually suspected in childhood when the most typical and concerning clinical features reveal, such as absent to severely delayed speech. Prenatal diagnosis is rare and often incidental. We report a case of prenatal diagnosis of Phelan McDermid syndrome.