Kleidokranial displazi: klinik, radyografik ve genetik bulgularla bir olgu sunumu
Amaçlar: Bu çalışmanın amacı kleidokranial displazi (disostozis)li bir hastayı sunmaktır.Yöntem: Kleidokranial displazili bir hasta oligodonti şikayeti ile Marmara Üniversitesi Dişhekimliği Fakültesi Oral Diagnoz ve Radyoloji Kliniği’ne başvurmuştur. Ekstra oral fiziksel muayenede; omuzunu hareket ettirmesi istendiğinde humeral başların normalden daha yakına geldiği görüldü. İntra-oral muayenede maksillada atrezi, derin damak ve mikst dentisyon olduğu belirlendi. Gömük dişlerin daha detaylı görüntülenmesi için dental volumetrik tomografi alındı. Klinik ve radyolojik muayeneyi teyit etmek için genetik analiz yapıldı. Hasta çocuk ve annesinden alınan kan örneklerinde High PCR Template Preparation Kit kullanılarak DNA incelemesi yapıldı.Bulgular: Genin ilk iki eksonu primer kullanılarak genişletildi. İki adet sıralanmış eksonda herhangi bir mutasyon izlenmedi. Sonuçlar: Bu hastalarda ortodontik ve cerrahi tedavi uygundur. Bu vakanın tedavi planlaması periodontal, cerrahi ve ortodontik tedavileri içermektedir ve gerektiğinde protetik rehabilitasyon planlanmıştır.
Anahtar Kelimeler:
Kleidokranial disostozis, dental volumetrik tomografi, supernumerer diş
Cleidocranial Dysplasia: A Case Report with Clinical, Radiographic, and Genetic Findings
Objectives: The purpose of this study is to present a patient with cleidocranial dysostosis.Materials and Methods: A 17 year-old male patient with cleidocranial dysostosis referred to Marmara University, Dentistry Faculty, Department of Oral Diagnosis and Radiology with complaints of oligodontia. In the extra-oral physical examination when the patient was asked to move his shoulders, he was capable of bringing closer the humeral heads, which characterized the hipermobility of the shoulders. In the intra-physical examination the atresia of the maxilla, ogival, deep palatum, and a mixed dentition were clear. In order to evaluate the impacted teeth in detail, dental volumetric tomography was taken. In order to confirm clinical and radiological diagnosis of cleidocranial dysostosis, the genetic analysis of the patient was performed. DNA from affected child and his mother was obtained from peripheral blood by using High PCR Template Preparation Kit.Results: The first two exons of the gene were amplified by using primers. No mutation was found in two sequenced exons. Conclusion: For patients with compromised esthetics, surgical treatment with orthodontic traction is a convenient and viable alternative. Our treatment plan consisted of periodontal and orthodontic treatments and further prosthodontic rehabilitation was planned in case of need.
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- Yayın Aralığı: Yılda 4 Sayı
- Başlangıç: 2011
- Yayıncı: Marmara Üniversitesi
Sayıdaki Diğer Makaleler
Nörotrofik faktörler ve depresyon: Patofizyoloji ve ötesi
Burcu Akel, Deran Oskay, Çiğdem Öksüz, Tüzün Fırat, Sevilay Karahan, Gürsel Leblebicioğlu
Benun Kılıç, Saime Batirel, Zeynep Akdeste, Nesrin Emekli
Ebru Alturfan, Ayşen Yarat, Göksel Şener
Kleidokranial displazi: klinik, radyografik ve genetik bulgularla bir olgu sunumu