Faculty of Dentistry, McGill University, Montreal, Quebec, Canada.
Faculty of Dentistry, McGill University, Montreal, Quebec, Canada; Faculty of Dentistry, Benghazi university, Libya.
Bone. 2021 Sep;150:116011. doi: 10.1016/j.bone.2021.116011. Epub 2021 May 18.
Osteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility and craniofacial and dental abnormalities such as congenitally missing teeth and teeth that failed to erupt which are believed to be doubled in OI patients than normal populations and were associated with low oral health quality of life. However, the etiology of these abnormalities remains unclear. To understand the factors influencing missing and unerupted teeth, we investigated their prevalence in a cohort of OI patients as a function of the clinical phenotype (OI type), the genetic variant type, the tooth type and the onset of bisphosphonate treatment.
A total of 144 OI patients were recruited from The Shriners Hospital, Montreal, Canada, between 2016 and 2017. Patients were evaluated using intraoral photographs and panoramic radiographs. Missing teeth were evaluated in all patients, and unerupted teeth were assessed only in patients ≥15 years old (n = 82).
On average, each OI patient had 2.4 missing teeth and 0.8 unerupted teeth, and the most common missing and unerupted teeth were the premolars and the upper second molars, respectively. These phenomena were more prominent in OI type III and IV than in OI type I, and were not sex or age-related. Missing teeth were significantly more common in patients with C-propeptide variants than all other variants (p-value <0.05). Unerupted teeth were significantly more common in patients with α1 and α2 glycine variants or substitutions than in those with haploinsufficiency variants. Early-onset of bisphosphonate treatment would significantly increase the risk of unerupted teeth in patients with OI types III and IV (OR = 1.68, 95% CI (1.15-1.53)).
The prevalence of missing and unerupted teeth at the tooth type level in OI patients varies according to the nature of the collagen variants and the OI type. These findings highlight the role of collagen in tooth development and eruption.
成骨不全症（OI）是一种遗传性疾病，其特征为骨骼脆弱以及颅面和牙齿异常，如先天缺牙和未萌出牙，OI 患者的这些异常情况据信比正常人群高出两倍，且与口腔健康生活质量较低有关。然而，这些异常的病因尚不清楚。为了了解影响缺失牙和未萌出牙的因素，我们研究了它们在 OI 患者队列中的患病率，这与临床表型（OI 类型）、遗传变异类型、牙齿类型和双膦酸盐治疗开始时间有关。
总共招募了 144 名来自加拿大蒙特利尔 Shriners 医院的 OI 患者，时间为 2016 年至 2017 年。通过口腔内照片和全景片对患者进行评估。所有患者均评估缺失牙，仅对≥15 岁的患者评估未萌出牙（n=82）。
平均而言，每个 OI 患者有 2.4 颗缺失牙和 0.8 颗未萌出牙，最常见的缺失牙和未萌出牙分别是前磨牙和上颌第二磨牙。这些现象在 OI 类型 III 和 IV 中比在 OI 类型 I 中更为明显，且与性别或年龄无关。C 肽前体变异患者的缺失牙比其他所有变异患者更常见（p 值＜0.05）。α1 和α2 甘氨酸变异或取代患者的未萌出牙比单倍不足变异患者更常见。OI 类型 III 和 IV 患者双膦酸盐治疗早期开始会显著增加未萌出牙的风险（OR=1.68，95%CI（1.15-1.53））。
OI 患者的牙齿类型水平的缺失牙和未萌出牙的患病率因胶原变异的性质和 OI 类型而异。这些发现强调了胶原在牙齿发育和萌出中的作用。
