APERT SYNDROME : CASE REPORT

Park, Kwang-Sun; Park, Ho-Won; Lee, Ju-Hyun; Seo, Hyun-Woo

Journal of the Korean Academy of Pediatric Dentistry 2008;35(3):539-547.
Published online August 31, 2008.

APERT SYNDROME : CASE REPORT

Kwang-Sun Park, Ho-Won Park, Ju-Hyun Lee, Hyun-Woo Seo

Department of Pediatric Dentistry, Oral Science Research Center, College of Dentistry, Kangnung National University

Apert syndrome : 증례보고

박광선, 박호원, 이주현, 서현우

강릉대학교 치과대학 소아치과학교실 및 구강과학연구소

Correspondence: Ho-Won Park, Tel: 033-640-3157, Email: pedo@kangnung.ac.kr

Received: 11 March 2008 • Accepted: 25 June 2008

Abstract

Apert syndrome is an autosomal dominant condition characterized by craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet. It occurs in about 1 of every 65,000 to 160,000 births and is caused by a mutation in the fibroblast growth factor receptor 2(FGFR2) gene. Apert syndrome typically produces acrobrachycephaly(tower skull). The occiput is flattened, and there is a tall appearance to the fore head. Ocular proptosis is a characteristic finding, along with hypertelorism and downward slanting lateral palpebral fissures. The middle third of the face is markedly retruded and hypoplastic, resulting in a relative mandibular prognathism. The reduced size of the nasopharynx and narrowing of the posterior choana can lead to mouth breathing, contributing to an open-mouth apprance. Three fourths of all patients exhibit either a cleft of the soft palate or a bifid uvula. The maxillary hypoplasia leads to a V-shaped arch and crowding of the teeth. A 6-year-old male patient visited to the Department of Pediatric dentistry, Kangnung National University of Dental Hospital. He visited the hospital to get treatment of carious teeth. The purpose of this report is to present a specific dental manifestations about the apert syndrome.

Key Words: Apert, Craniosynostosis, Syndactyly, Acrocephaly