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July 1979

Picture of the Month

Author Affiliations

From the Department of Pediatrics, Division of Neonatology, Magee-Womens Hospital, Pittsburgh.

Am J Dis Child. 1979;133(7):747-748. doi:10.1001/archpedi.1979.02130070083018

Denouement and Discussion 

Thrombocytopenia and Absent Radii Syndrome 

Manifestations  Major manifestations are bilateral radial aplasia and thrombocytopenia. Affected individuals often have in the neonatal period petechiae, purpura, and life-threatening bleeding episodes related to thrombocytopenia. Anemia may be present and is most likely the result of the bleeding diathesis. Leukemoid reactions are also frequent and may explain in part the frequently accompanying hepatosplenomegaly.Thrombocytopenia is episodic and often precipitated by nonspecific stress and infections. Bone marrow examination shows reduced or absent megakaryocytes. Mortality in the first year of life is high and is related to the bleeding diathesis. Survival after infancy is generally the rule. With increasing age, the thrombocytopenic episodes decrease and near-normal platelet counts are obtained by adulthood.Bilateral radial aplasia is observed in almost all cases. Other skeletal malformations may be present, including radial club hand, hypoplastic carpals and phalanges, hypoplastic or absent ulnae, abnormal humeri, dislocated hips,

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