1. Osteogenesis imperfecta tooth level phenotype analysis: Cross-sectional study
- Author
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Doaa Taqi, Hanan Moussa, Timothy Schwinghamer, Maxime Ducret, Didem Dagdeviren, Jean-Marc Retrouvey, Frank Rauch, Faleh Tamimi, Brendan Lee, V. Reid Sutton, Sandesh C.S. Nagamani, Francis Glorieux, Janice Lee, Paul Esposito, Maegen Wallace, Michael Bober, David Eyre, Danielle Gomez, Gerald Harris, Tracy Hart, Mahim Jain, Deborah Krakow, Jeffrey Krischer, Eric Orwoll, Lindsey Nicol, Cathleen Raggio, Peter Smith, and Laura Tosi
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0301 basic medicine ,Histology ,Taurodontism ,Physiology ,Endocrinology, Diabetes and Metabolism ,Dentistry ,Oral medicine ,030209 endocrinology & metabolism ,Article ,Tooth discoloration ,03 medical and health sciences ,0302 clinical medicine ,stomatognathic system ,Dentinogenesis Imperfecta ,Dentin ,medicine ,Humans ,Enamel paint ,business.industry ,Dentinogenesis ,Tooth abnormalities ,Osteogenesis Imperfecta ,medicine.disease ,stomatognathic diseases ,Cross-Sectional Studies ,Phenotype ,030104 developmental biology ,medicine.anatomical_structure ,Osteogenesis imperfecta ,visual_art ,visual_art.visual_art_medium ,Pulp (tooth) ,Connective tissue ,Malocclusion ,business ,Tooth - Abstract
INTRODUCTION: Dental anomalies in Osteogenesis imperfecta (OI), such as tooth discoloration, pulp obliteration (calcified dental pulp space), and taurodontism (enlarged dental pulp space) vary between and within patients. To better understand the associations and variations in these anomalies, a cross-sectional study was designed to analyze the dental phenotype in OI patients at the individual tooth type. METHOD: A cohort of 171 individuals with OI type I, III and IV, aged 3–55 years, were recruited and evaluated for tooth discoloration, pulp obliteration, and taurodontism at the individual tooth level, using intraoral photographs and panoramic radiographs. RESULTS: Genetic variants were identified in 154 of the participants. Patients with Helical α1 and α2 glycine substitutions presented the highest prevalence of tooth discoloration, while those with α1 Haploinsufficiency had the lowest (
- Published
- 2021
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