Presentation
The patient has known thrombocytopenia with absent radius syndrome. He presents with rectal bleeding and a low platelet count. For further investigation and workup.
Patient Data
Plain films confirm radii absence, present and normal thumbs, marked radial deviation of bilateral wrist and hands, and abnormal ulna bilaterally. The digits appear of normal length rather than hypoplastic. There is a scapholunate osseous coalition(synostosis) bilaterally. There is no metacarpal synostosis.
Zoomed wrist and hand images demonstrate the scapholunate osseous coalition(synostosis), significant radial deviation of the wrist and hands, and normal digits including the thumb.
Image courtesy: Dr IA Nagdee.
Case Discussion
The patient has known thrombocytopenia with absent radius (TAR) syndrome. At 70 years of age, he has been relatively stable throughout his life in view of no other associated features of the syndrome. On review of his past imaging on Pacs and history, he has no dextrocardia, no congenital cardiac anomalies and no fibula aplasia. He has no craniofacialial deformities or anomalies.The patient had persistent intermittent thrombocytopenia throughout his life and presented when symptomatic (bruising or bleeding).
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