Shwachman-Diamond Syndrome

Question 1

What are the clinical characteristics Shwachman-Diamond Syndrome?

Answer 1

1. Exocrine pancreatic dysfunction
2. Bone marrow dysfunction:
   hypoproductive cytopenias (neutropenia, thrombocytopenia, anemia)
3. Leukemia
4. Short stature
5. Skeletal abnormalities: usu. chondrodysplasia or congenital thoracic dystrophy
6. Hepatomegaly +/- elevation of serum aminotransferase
7. Congenital anomalies

Question 2

What is the inheritance pattern of Shwachman-Diamond Syndrome?

Answer 2

AR