Luana Schmidt Rieder

The enigma of a late-unveiled diagnosis: a case report of Kabuki syndrome

Case Presentation: An 8-year-old female, born to non-consanguineous parents, was referred to medical genetics due to congenital heart disease, neonatal hypotonia, polyhydramnios, and macrocephaly. During the prenatal period, Noonan syndrome was suspected. She was born prematurely at 33 weeks and presented with hypotoni...