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Medicine General 9a4971dd

Aplastic anemia with skeletal abnormalities, sho stature and pancreatic exocrine failure suggests a diagnosis of -

A
Fanconi anaemia
B
Diamond-Black fan anaemia
C
G6PD deficiency
D
Schwachman-Diamond syndrome
High-Yield Explanation
Answer- D. Schwachman-Diamond syndromeSchwachman-Diamond syndrome is the second Most Common Cause of Pancreatic Exocrine Insuficiency afier Cystic Fibrosis.Features of Schwachman- Diamond syndrome-i) PancreaseLow serum trypsinogenElevated feacal fatii) Hematological disorder-NeutropeniaAnemia (aplastic)Pancytopenia (aplastic anemia)iii) Skeletal abnormalities-Delayed bone ageProgressive deformuticsPathological fracturesAbnormal devlopement of growth plate

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