RT Journal
A1 Gellis SS, Feingold M, Chudley AE
T1 PIcture of the month
JF American Journal of Diseases of Children
JO American Journal of Diseases of Children
YR 1979
FD July 1
VO 133
IS 7
SP 747
OP 748
DO 10.1001/archpedi.1979.02130070083018
UL http://dx.doi.org/10.1001/archpedi.1979.02130070083018
AB 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,