Which condition is characterized by short stature, increased incidence of tumors or leukemia, and aplastic anemia?

Prepare for USMLE Step 1 Pathology Exam with comprehensive quizzes, flashcards, and detailed explanations. Enhance your understanding and be exam-ready!

Fanconi's anemia is a genetic disorder that is indeed characterized by short stature, an increased incidence of tumors or leukemia, and aplastic anemia. This condition is primarily caused by defects in the DNA repair mechanisms, specifically affecting the body's ability to repair damaged DNA, which leads to genomic instability.

Patients with Fanconi's anemia often present with short stature due to growth deficiencies associated with the disorder. The increased risk of developing cancers, particularly leukemia, arises from the accumulation of genetic mutations due to the impaired DNA repair pathways. Aplastic anemia, another hallmark of Fanconi's anemia, is a condition where the bone marrow fails to produce sufficient blood cells, leading to fatigue, increased infection risk, and bleeding issues.

This condition can also present with physical anomalies such as café-au-lait spots and skeletal abnormalities, which are part of the broader spectrum of features associated with the syndrome. The distinct combination of short stature, susceptibility to malignancies, and aplastic anemia highlights Fanconi's anemia as the correct answer in this question.

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