Abstract
Introduction:The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface with Class III malocclusion, besides systemic alterations. Most investigations available on the Apert syndrome address the genetic aspect or surgical management, with little emphasis on the oral aspects.Objective:to investigate the oral findings, including dental anomalies, ectopic eruption of the maxillary permanent first molars and soft tissue alterations, in subjects with Apert syndrome.Material and methods:clinical and radiographic examination of nine patients with Apert syndrome, aged 6 to 15 years, not previously submitted to orthodontic or orthognathic treatment.Results:dental anomalies were present in all patients, with one to eight anomalies per individual. The most frequent anomalies were tooth agenesis, mainly affecting maxillary canines, and enamel opacities (44.4% for both). Ectopic eruption of maxillary first molars was found in 33.3% of patients; lateral palatal swellings were observed in 88.8% of patients.Conclusions:The occurrence of typical lateral palatal swellings agrees with the literature. The high prevalence of dental anomalies and ectopic eruption may suggest a possible etiologic relationship with the syndrome.
Highlights
The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface with Class III malocclusion, besides systemic alterations
The term craniosynostosis refers to early closure of cranial sutures; the syndromes most frequently associated with craniosynostoses are the Apert and Crouzon syndromes, besides Pfeiffer, Saethre-Chotzen, Carpenter, Jackson-Weiss and cloverleaf skull syndromes[7]
Investigations reported in the literature on Apert syndrome are usually related to genetics or surgical management, with little emphasis on the oral aspects
Summary
The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface with Class III malocclusion, besides systemic alterations. Objective: to investigate the oral findings, including dental anomalies, ectopic eruption of the maxillary permanent first molars and soft tissue alterations, in subjects with Apert syndrome. The Apert syndrome[10] presents autosomal dominant inheritance assigned to mutations in the FGFR2 gene at locus 10q26 Patients with this syndrome present severe syndactyly of the 2nd, 3rd and 4th digits, exophthalmia, ocular hypertelorism and hypoplastic midface with Class III malocclusion and systemic alterations[10,17]. This study investigated the oral findings, including dental anomalies, ectopic eruption of the maxillary permanent first molars and soft tissue alterations, in a series of subjects with Apert syndrome
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