General and Oral Aspects in Apert Syndrome: Report of a Case

Villarreal-Becerra Einer

doi:10.23937/2378-3656/1410050

Villarreal-Becerra Einer

Open Access

https://doi.org/10.23937/2378-3656/1410050

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Abstract

Background: The present paper describes the general and oral manifestations in a 32-year-old man previously diagnosed with Apert syndrome. Clinical examination revealed features of acrocephalosyndactyly. The patient was found to have a flattened occiput with frontal prominence, abnormal contour of head (brachycephaly), shallow and downward slanting orbits with bilateral proptosis, hypertelorism, retruded midface, and prognathic mandible.Dental anormalies were present in a patient. Intraoral evaluation revealed normal mouth opening with anterior severe skeletal open bite and Byzantine-arch palate, maxillary alveolar ridges with crowding of maxillary and mandibular teeth, poor hygiene with heavy dental calculus and periodontal pseudopocket, dental caries, severe anterior open bite and crossbite, macroglosia and smooth tongue.

Highlights

Apert syndrome is a rare congenital type I acrocephalosyndanctyly syndrome, characterized by craniosynostosis, severe syndactyly of the hands and feet, symphalangism and dysmorphic facial features [1]
Premature fusion of cranial sutures restricts growing in the region of fused sutures and leads to craniofacial abnormalities, including calvarial shape
Apert syndrome is a developmental malformation characterized by craniosynostosis, a cone-shaped calvarium, hypertelorism, midface hypoplasia, pseudo cleft-palate, a parrot beak shaped nose, pharyngeal attenuation, and syndactyly of the hands and feet [3,4]

Summary

Introduction

Apert syndrome is a rare congenital type I acrocephalosyndanctyly syndrome, characterized by craniosynostosis (premature fusion of cranial sutures), severe syndactyly of the hands and feet, symphalangism and dysmorphic facial features [1]. Apert syndrome (acrocephalosyndactylia) is a developmental malformation characterized by craniosynostosis, a cone-shaped calvarium (acrocephaly), hypertelorism, midface hypoplasia, pseudo cleft-palate, a parrot beak shaped nose, pharyngeal attenuation, and syndactyly of the hands and feet [3,4]. Panoramic view radiograph showed deformity of jaws with severe skeletal open bite, partially erupted lower right wisdom molar , and presence and root fragments of first and second upper right molars (Figure 5). He had symmetrical syndactyly with complete fusion of all digits of hands (except thumb) and feet (Figure 6). Examination revealed that patient has some ophthalmologic, ear, and central nervous system abnormalities and mild degree of mental deficiency have been observed

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