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Blood, 1959, Vol. 14, No. 4, pp. 374-377.
© 1959 American Society of Hematology, Inc.

Congenital Hypoplastic Thrombocytopenia with Skeletal Deformities in Siblings

SIDNEY SHAW 1 and R. A. M. OLIVER 1

1 Charing Cross Hospital Medical School, University of London, England.

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.

Submitted on June 19, 1958
Accepted on July 17, 1958


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