Congenital Hypoplastic Thrombocytopenia with Skeletal Deformities in Siblings

The occurrence of congenital hypoplastic thrombocytopenia with absent radii is described in siblings.

Both presented with hemorrhagic manifestations within a few weeks of birth and the first died at the age of six and a half months.

Reference is made to two other examples in siblings.

These abnormalities are considered as due to a genetic defect and the cases are probably variants of Fanconi’s syndrome.