Bruna Kliemann

Early diagnosis of Ullrich congenital muscular dystrophy associated with a novel COL6A1 variant: a case report

Case Presentation: A two-year-old boy, born to non-consanguineous parents, was referred to medical genetics due to neurodevelopmental delay, peripheral hypotonia, congenital macrocephaly, and persistent mild hyperammonemia. His medical history included an incarcerated inguinal hernia and right cryptorchidism, both surg...