Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature

• Egile Nagusiak: Danai Veltra (Egilea), Nikolaos M. Marinakis (Egilea), Ioannis Kotsios (Egilea), Polyxeni Delaporta (Egilea), Kyriaki Kekou (Egilea), Konstantina Kosma (Egilea), Joanne Traeger-Synodinos (Egilea), Christalena Sofocleous (Egilea)
• Formatua: Liburua
• Argitaratua: MDPI AG, 2024-06-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

Shwachman Diamond Syndrome (SDS) is a multi-system disease characterized by exocrine pancreatic insufficiency with malabsorption, infantile neutropenia and aplastic anemia. Life-threatening complications include progression to acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS), critical...