Aase and Smith1 reported male siblings with congenital hypoplastic anemia and triphalangeal thumbs, and distinguished their disorder as an entity separate from Fanconi's pancytopenia and radial aplasia-thrombocytopenia. Recently, Murphy and Lubin2 described a third patient, also a male, with a similar thumb anomaly, aregenerative anemia, and several associated anomalies not present in the siblings described in the original report.
This report describes a fourth male patient with this syndrome and adds the data of an eight-year follow-up with hematologic response to prednisone therapy.
R.P. was initially evaluated at West Virginia University Hospital in 1964 at 10 years of age; he had a history of chronic anemia.