Shwachman-diamond syndrome : first case report at the royal medical services

الملخص EN

We report a case of Shwachman-Diamond syndrome who initially presented with severe anemia at the age of two months then later developed intermittent neutropenia and persistent thrombocytopenia and short stature.

Skeletal abnormalities fully manifested at the age of four years.

This is the 1st case to be reported in children in the Royal Medical Services hospitals.