🔍 Key radiographic features:
📋 Clinical scenario (examiner prompt)
A newborn is noted to have bilateral absence of the radii with short, bowed ulnae and radial deviation of the hands. The infant also has petechiae and bruising on the trunk and extremities. Platelet count is 15,000/μL. An X‑ray of the forearm (AP view) is shown.
1. Identify the diagnosis from the X‑ray and clinical context.
2. Describe the X‑ray findings (bilateral radial aplasia, bowed ulna).
3. Explain the pathophysiology (TAR syndrome, megakaryocyte defect).
4. Discuss management (platelet transfusions, orthopedic management).
🎯 Expected answers (for examiners)
⚡ Quick FCPS‑style MCQ
A newborn with bilateral absent radii and thrombocytopenia (platelets 15,000) most likely has:
A. Fanconi anemia B. TAR syndrome C. Wiskott-Aldrich syndrome D. ITP| Feature | TAR Syndrome | Fanconi Anemia |
|---|---|---|
| Radial aplasia | Bilateral | May be unilateral |
| Thrombocytopenia | Present (improves with age) | Progressive pancytopenia |
| Marrow | Decreased megakaryocytes | Hypoplastic, progressive |
| Associated anomalies | Cardiac, GI | Renal, cardiac, microcephaly |
| Chromosome fragility | No | Yes (diepoxybutane positive) |