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Case Reports
. 2013 May;17(2):294-7.
doi: 10.4103/0973-029X.119782.

Apert's syndrome: Report of a rare case

Parul V Bhatia  1 , Purv S Patel, Yesha V Jani, Naresh C Soni
Affiliations
Case Reports

Apert's syndrome: Report of a rare case

Parul V Bhatia et al. J Oral Maxillofac Pathol. 2013 May.

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.

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Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1
Figure 1
Extraoral front view of patient showing parrot beak nose, hypertelorism, downward slanting outer canthus of eyes, and depressed nasal bridge
Figure 2
Figure 2
Extraoral lateral view of patient showing concave facial profile with mandibular prognathism and large, low set ears
Figure 3
Figure 3
(a and b) Intraoral views showing crowded maxillary arch with deep pseudocleft in midline and normally aligned mandibular teeth
Figure 4
Figure 4
(a and b) Photographs showing surgically operated syndactyly in hands and syndactyly of feet
Figure 5
Figure 5
Water's view showing abnormal skull shape, facial asymmetry, and deviated nasal septum
Figure 6
Figure 6
Lateral cephalograph showing midface hypoplasia and fusion of cervical vertebra C5, C6, and C7
Figure 7
Figure 7
Axial section of computed tomography scan showing bilateral proptosis, fused lambdoid, and coronal sutures
See this image and copyright information in PMC

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