PMC5426146_01
Swelling and pus discharge from the left submandibular body region
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F1
Pelvic and long bone X-ray showing bilateral fractures of femurs treated with bone plates and screws
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F2
This was treated surgically with bone plates and screws [Figure 2].
Characteristic craniofacial features-short stature, frontal bossing, midface hypoplasia, beaked nose
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F3
General physical examination revealed dysmorphic features such as short stature, frontal and bilateral parietal bossing and hypoplastic midface, short, broad, spoon-shaped, stubby digits, and dysplastic grooved nails, toes showing sandal gap deformity [Figures 3 and 4].
Toes photograph showing sandal gap deformity (white arrows) and short-broad digits
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F4
General physical examination revealed dysmorphic features such as short stature, frontal and bilateral parietal bossing and hypoplastic midface, short, broad, spoon-shaped, stubby digits, and dysplastic grooved nails, toes showing sandal gap deformity [Figures 3 and 4].
Maxillary arch showing deep grooved narrow palate (black arrow) and upper anterior crowding
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F5
On hard-tissue examination, high-arched narrow grooved palate, microdontia, crowding, missing teeth, and multiple carious teeth were reported [Figure 5].
Orthopantomograph showing osteomyelitis (1) bilaterally in the mandibular body region with pathological fracture at inferior border in the left side, elongation of the condyles apophyses (2), an obtuse mandibular angle (3), partially pneumatized maxillary sinuses, generalized osteosclerosis of maxilla and mandible (4), partially pneumatized maxillary sinuses
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F6
Notably, bilateral sequestra presented in relation to mandibular body region, presence of obtuse mandibular angles, resorption of posterior borders of rami, elongation of the condylar apophyses giving mild beaked shape condylar appearance, partially pneumatized maxillary sinuses, generalized osteosclerosis of maxilla, and mandible with fracture of inferior border of mandible in the left body region [Figure 6].
Hand-wrist radiograph showing acroosteolysis of distal phalanges (white arrow)
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F7
Lateral skull radiograph showing open fontanels (anterior = white arrow, posterior = red arrow), wide sutures (black arrow), obtuse mandibular angle (yellow arrow), anterior and posterior open bite, generalize osteosclerosis, and nonpneumatized sinuses
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F8
Underdevelopment of the mandible was noticed with an obtuse jaw angle [Figures 8-10].
Posteroanterior skull view showing brachycephaly, open anterior fontanel, hypoplasia of maxilla and mandible, nonpneumatized sinuses, thick calvarium, generalized osteosclerosis of facial bones
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F9
Underdevelopment of the mandible was noticed with an obtuse jaw angle [Figures 8-10].
(a): Computed tomography scan axial view: open bilateral posterolateral fontanels (white arrows) and generalized increased bone density. (b) Computed tomography scan of mandible showing large ground glass attenuation in bilaterally body regions
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F10
Underdevelopment of the mandible was noticed with an obtuse jaw angle [Figures 8-10].