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Research Article Open access CC BY 4.0

Congestive Cardiac Failure in a Case of Fanconi Anaemia: Usual Presentation in a Rare Disease

Sanket Bhadra, Archita Jain, Jitendra Joshi Jr., Vyas K. Rathaur

International Journal of Research and Reports in Hematology · pp. 110–113 · Published 12 Apr 2023

Abstract

The present study highlights an usual case of congestive cardiac failure. Cardiovascular, gastrointestinal or renal anomalies can also occur. FA “facies” microcephaly, small eyes, epicanthal folds, abnormal ears. A 11 year old male presented in emergency with complain of generalized weakness and loss of apetite from 10 days, fever and cough from 5 days, vomiting(3-4 episodes/day) from 3 days. He had a history of similar episode and blood transfusion 2 months back. In our case patient presented in shock with CHF. He had severe anemia with hypoplastic thumb with short stature underdeveloped penis and abnormal pigmentation.

Pancytopenia hypoplastic thumb depigmentation short stature congestive cardiac failure.

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