Swollen Eye

20-year-old male with swelling at outer canthus of left eye.

Figure 1. Hypertelorism of eyes and swelling at outer canthus of left eye.

Figure 2. Syndactyly of second, third, and fourth digits of hands (moth mitten appearance).

Figure 3. Syndactyly of all the toes of the feet.

Figure 4. Radiograph skull AP view shows turribrachycephaly and hypertelorism.

Figure 5. Axial CT scan shows hypoplastic maxillary sinuses, unfused posterior arch of atlas, and increase atlanto-axial interspace.

Figure 6. Axial CT shows bilateral mastoiditis.

Figure 7. Radiograph cervical spine lateral view shows congenital block vertebrae at C3-C4 and C5-C6-C7 level with rudimentary disc space between them.

Figure 8A and B. Radiograph of both hands shows soft tissue syndactyly of second, third, fourth, and fifth synostosis involving phalanges of third and fourth digits with deformed phalanges of first digit (delta shaped).

Figure 9. Radiographs of both feet showed soft tissue 
syndactyly of all the toes and phalanges of great toe were deformed.

Figure 10. Radiograph shows bilateral bowing deformity of humerus and decreased bilateral acromio-clavicular space.

Diagnosis: Apert syndrome

Radiograph of the shoulder AP view showed expansion of medullary cavity of humerus and acteabulo-humeral space was also decreased.

Apert syndrome is a rare syndrome characterized by craniosynostosis, mid face hypoplasia, exorbitism, and symmetric syndactyly of both hands and feet.

Apert syndrome makes up approximately 4% of all cases of craniosynostosis and incidence is reported to be 1/160,000 live births.

. The typical craniofacial appearance includes a flat, elongated forehead with bitemporal widening and occipital flattening.

Cervical spine involvement in the form of variable degrees of fusion has been described, involving the articular facets, the neural arch or transverse processes, or block fusion of the vertebral bodies.

Other skeletal abnormalities include limited mobility at glenohumeral joint and elbow joint, multiple epiphyseal dysplasia, very short or absent neck of scapula, small capitulum and flat radial head.