Skeletal anomalies in addition to absent radii
include ulnar hypoplasia, humeral hypoplasia, shoulder girdle hypoplasia,
various hand anomalies, and lower limb dysplasias. Mandibular and maxillary
hypoplasia are occasional findings. Congenital cardiac disease occurs in
30% of patients, most commonly tetralogy of Fallot and atrial septal
defect. Additional findings may include hepatosplenomegaly and renal
abnormalities. Symptomatic thrombocytopenia occurs in 50% of patients by
the age of 1 week, although it may not occur until early adult life.
Purpura, petechiae, epistaxis, gastrointestinal hemorrhage, and hematuria are common modes
of presentation. Patients presenting outside the neonatal period may give a
history of easy bruising. Thrombocytopenia may be episodic and is commonly
precipitated by infection. In those patients surviving to adult life, the
thrombocytopenia tends to be less severe and may be asymptomatic. Laboratory
investigations may reveal a normal or low platelet count and eosinophilia.
During episodes of thrombocytopenia, a leukocytosis with left shift is
common. Anemia is usually secondary to blood loss rather than marrow
aplasia. Megakaryocytes are not seen on examination of the bone marrow. The
thrombocytopenia has been treated by steroids and splenectomy.