Table 2 Criteria for diagnosis of thalassemia in dry bone (SD = strongly diagnostic, D = diagnostic, and S = suggestive).
Pathology | Diagnostic strength | Differential diagnosis | References |
|---|---|---|---|
Marrow hyperplasia of the facial bones: maxillae- leading to ventral displacement of central incisors, zygomatic bones-leading to orbital displacement, and/ or mandible (rodent facies deformity) | SD | ||
Radiographic: “rib-within-a-rib” appearance. Radiographically defined sclerotic bands within the ribs due to extramedullary hematopoiesis | SD | Sickle cell anemia, osteomyelitis, leukemia* | |
Poor or lack of pneumatization of the paranasal and cranial sinuses sparing the ethmoid sinuses | D | Neoplasms, Paget’s disease, trauma, hypopituitarism, hypothyroidism, osteopetrosis, sickle cell anemia | |
Widening of entire rib, or widening of the rib head and neck with pronounced bulbous appearance posteriorly (costal osteomas). Associated with radiograph appearance of erosion of the inner cortex | D | Neuroblastoma, Nieman-Pick disease, Leukemia | |
Enlarged tubular bones of the hands and feet due to marrow hyperplasia (infants) sometimes associated with enlarged nutrient foramina or Radiographic: coarse trabecular patterns of the hands or feet, sometimes associated with cyst-like lucencies due to focal collection of hyperplasic marrow | D | Treponemal disease, leprosy, tuberculosis | |
Premature fusion of epiphyseal plates particularly of the proximal humerus and distal femur, often causing short long bone maximum length | D | Scurvy, hypervitaminosis A, trauma, achondroplasia, Morquio’s disease, Ellis-van Creveld disease, peripheral dysostosis, poliomyelitis, mucopolysaccharidosis, rickets, osteomalacia | |
Extensive marrow proliferation of the long bones leading to expansion of the medullary canal, associated with thin cortices (and in extreme circumstances honeycomb-like porosity) resulting in swollen appearance or metaphyseal flasked shaped deformities | S | Other hemolytic anemia, scurvy, rickets, metaphyseal dysplasia, Gaucher’s disease, osteomyelitis | |
Severe porotic hyperostosis/ diploic expansions of vault and maxilla with “hair-on-end” appearance and/ or cribra orbitalia | S | After Lagia74: hemolytic anemias and red cell enzyme disorders (including sickle cell disease, iron deficiency anemia and G-6-PD deficiency), cancers (including leukemia, multiple myeloma, meningioma, metastases and secondary to kidney cancers), and polycythemia | |
Wide dental spacing | S | Skeletal dysplasias, normal variation | |
Spiculated or scalloped proliferation of subperiosteal reactive new bone on the shafts of the limb bones and the clavicles | S | Infectious diseases, rickets, scurvy, hypertrophic osteoarthropathy, Gaucher’s diseases, Paget’s disease | |
Marked osteoporosis and cortical thinning of the vertebrae, with compression fractures in severe cases | S | Age related osteoporosis, osteomalacia, scurvy, trauma | |
Bone infarction | S | Osteomyelitis, sickle cell anemia, osteosarcoma | |
Enlargement and alteration of the trabecular pattern in flat bones (pelvis and scapula) | S | Other hemolytic anemia, leukemia |
