Aplastic anemia with skeletal abnormalities, sho stature and pancreatic exocrine failure suggests a diagnosis of -
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
Fanconi anaemia
Diamond-Black fan anaemia
G6PD deficiency
Schwachman-Diamond syndrome