Apert's syndrome: Report of a rare case

Abstract

Apert's syndrome (AS), a form of acrocephalosyndactyly, is a rare congenital disorder with autosomal dominant mode of transmission; characterized by craniosynostosis, midface hypoplasia, and syndactyly of hands and feet. The rarity of the syndrome and similarity of features with other craniosynostosis syndromes makes it a diagnostic dilemma. Genetic counseling and early intervention form an essential part of treatment. Because of the paucity of reported cases in Indian literature and typical features in oral cavity, a dentist should be competent to diagnose and form a part of the multidisciplinary management team. Here, we report a case of a 14-year-old boy with AS.

Keywords: Apert's syndrome; craniosynostosis; syndactyly.

Figure 1

Extraoral front view of patient showing parrot beak nose, hypertelorism, downward slanting outer canthus of eyes, and depressed nasal bridge

Figure 2

Extraoral lateral view of patient showing concave facial profile with mandibular prognathism and large, low set ears

Figure 3

(a and b) Intraoral views showing crowded maxillary arch with deep pseudocleft in midline and normally aligned mandibular teeth

Figure 4

(a and b) Photographs showing surgically operated syndactyly in hands and syndactyly of feet

Figure 5

Water's view showing abnormal skull shape, facial asymmetry, and deviated nasal septum

Figure 6

Lateral cephalograph showing midface hypoplasia and fusion of cervical vertebra C5, C6, and C7

Figure 7

Axial section of computed tomography scan showing bilateral proptosis, fused lambdoid, and coronal sutures