Which of the following indicates a diagnosis of Fanconi anemia?

Fanconi anemia is a rare genetic disorder characterized by a variety of clinical features, primarily due to defects in the DNA repair process. A hallmark of this condition is the presence of congenital anomalies and skin changes, which can include café-au-lait spots, short stature, skeletal abnormalities, and genital abnormalities. These manifestations arise because Fanconi anemia affects multiple organ systems during development.

Patients with Fanconi anemia often present with aplastic anemia due to bone marrow failure, which can lead to increased susceptibility to infections and hematologic malignancies. The recognition of congenital anomalies, such as upper limb malformations or bone defects, combined with specific skin changes, supports the diagnosis of this condition.

While deficiencies in clotting factors, autosomal dominant inheritance patterns, and increased white blood cell counts may be observed in various other conditions or contexts, they do not specifically characterize Fanconi anemia. The distinctive combination of congenital features and skin changes is crucial for making an accurate diagnosis of this disorder.