PMC3633291_01
Profile pictures showing short stature, hypertelorism, depressed nasal bridge, underdeveloped maxilla, and frontal bossing
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F1
Extraoral examination revealed hypertelorism (increased intercanthal distance of eyes), frontal bossing with brachycephalic skull, depressed and flattened nasal bridge, malar hypoplasia, and an underdeveloped maxilla with a prognathic mandible and concave facial profile [Figure 1].
(a) Fingers showing broad thumb and hypoplastic distal phalanges; (b) Brachydactyly of fourth toe
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F2
Hand showed hypoplastic distal phalanges [Figure 2a], and brachydactyly of the fourth toe [Figure 2b] was seen.
(a) Cone-shaped narrow thorax; (b) Approximation of shoulders to midline
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F3
The thorax was narrow and cone shaped, and spinal abnormalities like mild scoliosis and kyphosis were appreciated [Figure 3a]. On palpation, a depression over the sagittal suture with presence of metopic suture of the frontal bone was felt and the patient could approximate her shoulders in midline [Figure 3b].
Intraoral pictures showing delayed eruption of permanent teeth, retained deciduous teeth, and high-arched narrow palate
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F4
Erupted upper right permanent first molar and retained deciduous teeth were seen with high arched and narrow palate [Figure 4a, b] with erupted right permanent first molar and retained deciduous teeth [Figure 4c] were seen.
(a) Panoramic radiograph showing few impacted teeth, multiple retained deciduous teeth, delayed eruption of permanent teeth, and underdeveloped maxillary sinuses; (b) AP pelvis showing widened pubic symphysis and triradiate cartilage
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F5
Panoramic radiograph revealed few impacted teeth, multiple retained deciduous teeth, and underdeveloped maxillary sinuses [Figure 5a]. AP view of pelvis demonstrated a widened pubic symphysis and triradiate cartilage [Figure 5b].
AP and lateral skull radiographs showing patent fontanelles and multiple wormian bones
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F6
Skull AP and lateral views showed the presence of multiple wormian bones with open fontanelles [Figure 6].
Chest radiograph shows bell-shaped thorax and bilateral hypoplasia of clavicles
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F7
Chest radiograph showed bell-shaped rib cage and hypoplastic clavicles [Figure 7].