Fanconi anemia What every physician needs to know: Fanconi anemia is a recessively inherited disorder classically characterized by bone marrow failure, congenital anomalies, and cancer predisposition. Malignancies typically include acute myelogenous leukemia, squamous cell carcinoma (oral, esophageal, vulvar), and liver adenomas or hepatocellular carcinomas. The clinical phenotype of Fanconi anemia is broad. The absence of…
Fanconi anemia What every physician needs to know: Fanconi anemia is a recessively inherited disorder classically characterized by bone marrow failure, congenital anomalies, and cancer predisposition. Malignancies typically include acute myeloid leukemia, squamous cell carcinoma (oral, esophageal, vulvar), and hepatocellular carcinomas. Additionally, patients can develop liver adenomas. The clinical phenotype of Fanconi anemia is broad.…
Shwachman-Diamond syndrome What every physician needs to know: Shwachman-Diamond syndrome (SDS) is an autosomal recessively inherited bone marrow failure syndrome. Classically, the disease presents with bone marrow failure and exocrine pancreatic dysfunction. Additional organ systems are also frequently affected. Non-classical presentations are common and thus, clinicians should remain alert to the possibliity of SDS in…
