Pancreatic Insufficiency-Anemia-Hyperostosis Syndrome

This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.

Epidemiology

It has been described in four children, three boys and one girl, from two consanguineous families.

Etiology

The disease is due to a mutation in the COX4I2 gene, encoding a mitochondrial cytochrome C oxidase sub-unit.

Genetic counseling

Transmission is autosomal recessive.