PMC4144061_01
Frontal view of the face; midface hypoplasia, depression of nasal bridge, proptosis, hypertelorism
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F1
Extraoral examination revealed abnormal shape and contour of the head (turribrachycephaly), depression of the nasal bridge, frontal bossing, midface hypoplasia, characteristic 'crossbow shape' of upper lip, trapezoidal mouth-shape and cephalometric dolichofacial pattern, proptosis and exorbitism (Fig. 1).
Syndactyly of hands
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F2
Examination of the upper limbs showed symmetric soft tissue syndactyly of all digits almost forming a single unit with a single broad fused nail causing a spoon-like deformity (Fig. 2).
(A) Syndactyly of right foot and (B) syndactyly of left foot
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F3
The lower limbs also showed symmetrical syndactyly of all toes with broad fused single nail (Figs 3A and B), delayed milestones, and mild mental deficiency was also recorded.
Pseudocleft
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F4
The intraoral features include high-arched palate associated with lateral swellings of the palatine processes on either side of the midline mimicking a 'pseudocleft' (Fig. 4).
Intraoral view
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F5
The primary teeth were retained with delayed and ectopic eruption of permanent teeth (Fig. 5).
(A) Radiographs of hand and (B) radiographs of feet
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F6
Radiographs of both hands showed complete bony syn-dactyly of all the digits involving the phalanges (Fig. 6A). Radiographs of right foot showed syndactyly of all phalanges with fusion of first and second metatarsals and left foot showed fusion of first and second phalanges at their distal ends along with the fusion of first and second metatarsals, the third, fourth and ffth phalanges were fused at their proximal ends (Fig. 6B).
(A) Anteroposterior view of skull and (B) lateral view of skull
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F7
Skull radiographs revealed fused coronal sutures, turribrachycephalic skull contour and elongated fat forehead (Figs 7A and B).