Table 1 Clinical findings and treatments of gnathodiaphyseal dysplasia patients.
From: Ano5 modulates calcium signaling during bone homeostasis in gnathodiaphyseal dysplasia
Patient | Patient ID | II4 | III6 | III10 | IV5 | IV6 |
Sex/Age (yr) | M/56 | F/31 | F/26 | F/8 | F/7 | |
Body measurement | Height (cm)/Weight (kg) | 165/57 | 151/39 | 153/40 | 113/20 | 112/20 |
Onset | Age at onset (yr) | 11 | 6 | 18 | 7 | 7 |
Initial symptoms | Mandibular and maxillary mass | Mandibular mass | Impacted tooth | Impacted tooth | NA | |
Features of jawbones | Gnathic location | Mandible and maxilla | Mandible and maxilla | Mandible and maxilla | Mandible | No |
Tooth | Some teeth missing, multiple impacted teeth in the inferior margin of the mandible | Multiple impacted teeth in the nasal side of the maxillary sinus and the inferior margin of the mandible | Some teeth missing, multiple impacted teeth in the nasal side of the maxillary sinus and the inferior margin of the mandible | Some teeth missing, multiple impacted teeth in the inferior margin of the mandible | No | |
Typical radiologic features | Skin and plate repaired in the operation maxilla and mandible | Skin and plate repaired in the operation mandible, multifocal/multiquadrant progressively expansive maxilla with the surface convex and uneven; huge soft texture density masses adjacent to bilateral nasal cavities, left superior sinus, ethmoid, and left intraorbital muscles, and high-density patches scattered inside; the left eyeball compressed and anterior and laterally shifted | Patchy radiodense lesions adjacent to dental roots in maxilla and mandible; the jaws swelled slightly to the periphery; less dense shadows seen on the buccal side of left mandibular angle | Extensive radiopaque areas throughout the maxilla and the mandible | NA | |
Features of long bones | No | Cortical bone thickening | Cortical bone thickening | NA | NA | |
Treatments | Total maxillectomy and mandibulectomy, mandibular reconstruction using a titanium plate | Total mandibulectomy, mandibular reconstruction using a titanium plate (11 yr); mandibular reconstruction with free vascularized fibular graft, repaired by pectoralis major myocutaneous flap; subtotal bilateral maxillectomy (22 yr) | Removal of impacted mandibular and maxillary tooth | No | No | |
Histology of jawbone lesions | NA | Ossifying fibroma, a fibroblastic stroma with variable cellularity and a heterogeneous osseous component composed of woven bone and more cementum-like material | Florid cemento-osseous dysplasia, lesions near the apex of the teeth, and multifocal and multiquadrant involvement of tooth-bearing areas of the jaws | No | NA | |
