In which condition do patients typically present with pure red cell aplasia and congenital anomalies?

Diamond-Blackfan anemia is characterized by pure red cell aplasia, which means there is a selective loss of red blood cell precursors in the bone marrow, leading to a significant anemia usually detected in early childhood. This condition results from an intrinsic defect in the erythroid progenitor cells, often associated with genetic mutations.

Patients with Diamond-Blackfan anemia also frequently present with congenital anomalies. These can include upper limb malformations, short stature, and craniofacial dysmorphisms. The syndrome's association with these developmental defects differentiates it from other forms of anemia, such as vitamin B12 deficiency, iron deficiency anemia, or thalassemia, which typically do not present with such a spectrum of congenital anomalies.

In summary, Diamond-Blackfan anemia is the condition where both pure red cell aplasia and congenital anomalies are observed, making it the correct answer to the question.