V

 

Verloes-Bourguignon sendromu

Kalıtsal - AD

Gelişme geriliği

Maksilla hipoplazisi (mikrognati)

Mandibular Prognatizm

Oligodonti

Amelogenesis imperfecta

Mikrodonti

Dişlerde renklenme (sarı)

Pulpa odası büyük

Taurodontizm

Periapikal infeksiyonlar

Anodonti (sürekli dişlerde)

Mitral kapak prolapsusu/yetmezliği (ender bulgu)

Kemik yaşı geri

Vertebra anomalileri

Skolyoz

Hipertrikoz (ender bulgu)

 

  • Huckert M, Stoetzel C, Morkmued S, et al. Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. Human Molecular Genetics, 24: 3038-3049, 2015

  • Dugan SL, Temme RT, Olson RA, et al. New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse. American Journal of Medical Genetics, 167A: 1396-1399, 2015

  • Guo D, Regalado ES, Pinard A, et al. LTBP3 pathogenic variants predispose individuals to thoracic aortic aneurysms and dissections. American Journal of Human Genetics, 102: 706-712, 2018