- Chronic cyclical neutropenia & skeletal dysplasia
Non Skeletal Manifestations
- Exocrine pancreatic insufficiency
- Failure to thrive
- Malabsorption syndrome – diarrhoea & steatorhea
- Respiratory & cutaneous infection
- Lab
- Normal sweat test
- Cyclical neutropenia
- Thrombocytopenia
- Pancytopenia
Skeletal Manifestations
- Short stature
- Metaphyseal chondreodysplasia
- Coxa vara
- AVN
- Clinodactyly
- Genu varum
- Short flared ribs
Treatment
- pancreatic supplements