Table 2 Differential diagnoses of osteodysplasia syndromes, which involve bone anomalies in the oral and maxillofacial region
Familial or not | Disruption of genes | Congenital or acquired | Common sites of osteolysis | Features except ostelysis |
|---|---|---|---|---|
Sporadic | None | Acquired | Shoulder, Pelvis (not systemic) | Pain, swelling (systemic inframation) |
Familial | NOTCH2 | Congenital | Metacarpal bones, metatarsal bones, forearm bones (often systemic) | Short stature, optic atrophy, hearing loss |
Familial | MAFB | Congenital | Carpals, phalanges of the toes (often systemic) | Renal failure |
Sporadic | NPHS2, ACTN4 | Congenital | Carpals, phalanges of the toes (not systemic) | Renal failure, hypertension |
Familial | MMP2 | Congenital | Phalanges, rib, clavicular (not systemic) | Atraumatic painless fracture |
Familial | Not identified | Congenital | Phalanges of the fingers (not systemic) | Tabes dorsalis, syringomyelia, spinal cord tumor |
Familial | Not identified | Congenital | Phalanges of the fingers and toes (not systemic) | Skin ulcers |
Familial | ASAH1 | Congenital | Phalanges of the fingers and toes (not systemic) | Painful joint deformity, subcutaneous nodules, hoarseness |
Familial | MMP14 | Congenital | Phalanges of the fingers and toes (not systemic) | Short stature, severe joint contractures, peripheral corneal opacities |