Shriners Hospital for Children, Montreal, Quebec, Canada.
Department of Pediatrics, McGill University, Montreal, Quebec, Canada.
Orthod Craniofac Res. 2024 Apr;27(2):237-243. doi: 10.1111/ocr.12707. Epub 2023 Aug 29.
Cranio-cervical anomalies are significant complications of osteogenesis imperfecta (OI), a rare bone fragility disorder that is usually caused by mutations in collagen type I encoding genes.
To assess cranio-cervical anomalies and associated clinical findings in patients with moderate-to-severe OI using 3D cone beam computed tomography (CBCT) scans.
Cross-sectional analysis of CBCT scans in 52 individuals with OI (age 10-37 years; 32 females) and 40 healthy controls (age 10-32 years; 26 females). Individuals with a diagnosis of OI type III (severe, n = 11), type IV (moderate, n = 33) and non-collagen OI (n = 8) were recruited through the Brittle Bone Disorders Consortium. Controls were recruited through the orthodontic clinic of the University of Missouri-Kansas City (UMKC).
OI and control groups were similar in mean age (OI: 18.4 [SD: 7.2] years, controls: 18.1 [SD: 6.3] years). The cranial base angle was increased in the OI group (OI: mean 148.6° [SD: 19.3], controls: mean 130.4° [SD: 5.7], P = .001), indicating a flatter cranial base. Protrusion of the odontoid process into the foramen magnum (n = 7, 14%) and abnormally located odontoid process (n = 19, 37%) were observed in the OI group but not in controls. Low stature, expressed as height z-score (P = .01), presence of DI (P = .04) and being male (P = .04) were strong predictors of platybasia, whereas height z-score (P = .049) alone was found as positive predictor for basilar impression as per the Chamberlain measurement.
The severity of the phenotype in OI, as expressed by the height z-score, correlates with the severity of cranial base anomalies such as platybasia and basilar impression in moderate-to-severe OI. Screening for cranial base anomalies is advisable in individuals with moderate-to-severe OI, with special regards to the individuals with a shorter stature and DI.
颅颈畸形是成骨不全症（OI）的严重并发症，OI 是一种罕见的骨骼脆弱性疾病，通常由Ⅰ型胶原编码基因突变引起。
使用三维锥形束 CT（CBCT）扫描评估中重度 OI 患者的颅颈畸形和相关临床发现。
对 52 名 OI 患者（年龄 10-37 岁；32 名女性）和 40 名健康对照者（年龄 10-32 岁；26 名女性）的 CBCT 扫描进行横断面分析。通过脆性骨疾病联盟招募 OI Ⅲ型（严重型，n=11）、Ⅳ型（中度型，n=33）和非胶原 OI（n=8）患者。对照组通过密苏里堪萨斯城大学（UMKC）正畸诊所招募。
OI 组和对照组的平均年龄相似（OI 组：18.4 [标准差：7.2] 岁，对照组：18.1 [标准差：6.3] 岁）。颅底角在 OI 组中增加（OI 组：平均 148.6° [标准差：19.3]，对照组：平均 130.4° [标准差：5.7]，P=0.001），表明颅底更平坦。齿状突突入枕骨大孔（n=7，14%）和异常位置的齿状突（n=19，37%）在 OI 组中观察到，但在对照组中未观察到。身材矮小，表现为身高 z 评分（P=0.01）、存在 DI（P=0.04）和男性（P=0.04）是扁平颅底的强烈预测因素，而仅身高 z 评分（P=0.049）被发现是根据 Chamberlain 测量法对基底凹陷的阳性预测因素。
OI 表型的严重程度，由身高 z 评分表示，与中重度 OI 中颅底异常（如扁平颅底和基底凹陷）的严重程度相关。建议对中重度 OI 患者进行颅底异常筛查，特别是身材矮小和 DI 的患者。
