Congenital Hypoplastic Thrombocytopenia with Skeletal Deformities in Siblings
Open Access
- 1 April 1959
- journal article
- research article
- Published by American Society of Hematology in Blood
- Vol. 14 (4) , 374-377
- https://doi.org/10.1182/blood.v14.4.374.374
Abstract
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.This publication has 3 references indexed in Scilit:
- Congenital Amegakaryocytic Thrombocytopenia with Congenital Deformities and a Leukemoid Blood Picture in the NewbornBlood, 1957
- Constitutional Anemia (Fanconi’s Syndrome) and Leukemia in Two BrothersBlood, 1955
- CONGENITAL HYPOPLASTIC ANEMIA ASSOCIATED WITH MULTIPLE DEVELOPMENTAL DEFECTS (FANCONI SYNDROME)Blood, 1947