PMC5613360_01
Frontal chest radiograph showing cardiomegaly, sloping slender fifth and sixth posterior ribs (white arrows). The absence of lateral and medial end of both clavicles (red arrow) with a tiny bone fragment was seen in the acromial end of both clavicles (yellow arrow).
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The absence of lateral and medial ends of both clavicles with a tiny bone fragment was seen in the acromial ends of both clavicles (Figure 1).
Skull radiograph lateral and anteroposterior views (a, b) showing disproportionate large calvarium with hypoplastic facial bones, small mandible with small ascending ramus, and obtuse mandibular angle (red arrow) and overcrowding of teeth (blue arrow). CT head (c) showing open anterior fontanelle (white arrow) and large cranial vault with thin diploic space (red arrow).
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Skull radiograph in lateral view showed disproportionate large calvarium with hypoplastic facial bones, small mandible with small ascending ramus, and obtuse mandibular angle with the overcrowding of teeth (Figures 2(a) and 2(b)). CT head showed open anterior fontanelle, large cranial vault with thin diploic space, and no abnormality in the brain (Figure 2(c)).
Radiograph of the dorsal spine (lateral projection) showing thoracic kyphosis and mild concavity in the anterior aspect of vertebral bodies (arrows). Prevertebral calcific foci seen adjacent to lower thoracic vertebrae.
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Prevertebral calcifications are shown in Figure 3.
Anteroposterior radiograph of both hands (a) and foot (b) showed resorption of terminal phalanges with preservation of soft tissue (white arrow).
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Radiograph of both hands' anteroposterior view showed resorption of terminal phalanges with preservation of soft tissue (Figure 4(a)). Radiograph of both feet's anteroposterior view showed resorption of terminal phalanges with preservation of soft tissue (Figure 4(b)).
Anteroposterior radiograph of pelvis with both hip joints (a) showed widening of pubic symphysis, bilateral shallow acetabulum (white arrow), abnormal contour of bilateral femoral head with increased neck shaft angle (coxa valga deformity) (red arrow), enlarged and elongated bilateral greater trochanter, superolateral migration of bilateral femoral head overlying adjacent to iliac bones (green arrow), and slender proximal femoral shafts. CT of pelvis (b) confirming pubic diastasis, bilateral shallow acetabulum, bilateral coxa valga deformity, bilateral hip dislocation, and pseudoarticulation of the left femoral head with iliac bone.
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Radiograph of pelvis with both hip joints in anteroposterior view showed widening of pubic symphysis, bilateral shallow acetabulum, abnormal contour of bilateral femoral head with increased neck shaft angle (coxa valga deformity), enlarged and elongated bilateral greater trochanter, superolateral migration of bilateral femoral head overlying adjacent to iliac bones, and slender proximal femoral shafts (Figure 5(a)). Further imaging with computed tomography (CT) of pelvis confirmed the radiographic findings of pubic diastasis, bilateral shallow acetabulum, bilateral coxa valga deformity, bilateral hip dislocation, and pseudoarticulation of the left femoral head with iliac bone (Figure 5(b)).
Real life pictures of the 16-year-old male patient with bird-like facies: (a) en face view and (b) profile view.
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The boy was short and had a bird-like facial appearance (Figure 6).