Abstract
ABSTRACTThis cross‐sectional study investigated the natural history of craniofacial deformities in osteogenesis imperfecta (OI) and determined the impact of three‐dimensional (3D) analysis on diagnosis and treatment planning in orthodontics and orthognathic surgery in comparison to conventional two‐dimensional (2D) cephalometric examination. 3D images of the craniofacial complex were acquired during 1 calendar year using cone‐beam computed tomography (CBCT) from a cohort of 41 individuals (aged 11 to 35 years; 28 females) with OI type III (n = 13) or IV (n = 28). 3D evaluation of the craniocervical junction and upper airways was conducted using InVivoTM. 2D lateral cephalogram was constructed, traced, and examined using the University of Western Ontario analysis (DolphinTM). Quantitative and qualitative parameters were compared between OI type III and type IV groups (unpaired t test) and the unaffected population (Z‐score). 3D evaluation revealed a high prevalence of craniocervical abnormalities, craniofacial asymmetries, and nasal septum deviation in both OI groups. Mean airway dimensions were comparable to the non‐affected population norms, except for 5 individuals who had insufficient airway dimensions. In 2D, the maxilla was retrognathic and hypoplastic, and the mandibular position was convergent with respect to the face, resulting in mandibular prognathism and face height reduction. The 2D trends were more pronounced in OI type III, whereas the 3D craniocervical and airway abnormalities were common in both types. This study illustrates the prevalence of craniofacial and airway anomalies in OI that occur along with facial deformities are not associated with postcranial phenotype and OI type, are apparent only in 3D evaluation, and are likely to influence treatment strategy. For OI patients, a team effort involving a dentist, orthodontist, neurologist, and ear‐nose‐throat (ENT) practitioner is recommended for successful management of craniofacial deformities. © 2018 The Authors JBMR Plus published by Wiley Periodicals, Inc. on behalf of American Society for Bone and Mineral Research.
Highlights
Osteogenesis imperfecta (OI) is a rare genetic disorder that is characterized by frequent bone fractures, short stature, deformities of long bones and spine, craniofacial anomalies, dentinogenesis imperfecta, sclerae discoloration, and joint hyperlaxity.[1,2] The traditional classification of OI distinguishes four types:(1–3) type I is mild, type II is perinatally lethal, type III is severe/deforming, and type IV is moderate-severe
The clinical assignment of OI type III or OI type IV is based on patient mobility and stature.[4]. Other types of OI are rare.[1,2] In 90% of individuals having a clinical diagnosis of OI, the disease can be explained by pathologic variants in COL1A1 and COL1A2, the genes encoding collagen type I alpha chains.[5] of the patients with moderate and severe forms of OI, 20% have mutations other than COL1A1 and COL1A2
These 41 patients were earlier enrolled in a DNA sequence and mutation spectrum study along with other 557 patients who did not participate in the current study of craniofacial deformities.[5]. Of the 13 individuals diagnosed with OI type III, 6 had mutations in COL1A1, 5 had mutations in COL1A2, and 2 had biallelic mutations in CRTAP
Summary
Osteogenesis imperfecta (OI) is a rare genetic disorder that is characterized by frequent bone fractures, short stature, deformities of long bones and spine, craniofacial anomalies, dentinogenesis imperfecta, sclerae discoloration, and joint hyperlaxity.[1,2] The traditional classification of OI distinguishes four types:(1–3) type I is mild, type II is perinatally lethal, type III is severe/deforming, and type IV is moderate-severe. The clinical assignment of OI type III or OI type IV is based on patient mobility and stature.[4] Other types of OI are rare.[1,2] In 90% of individuals having a clinical diagnosis of OI, the disease can be explained by pathologic variants in COL1A1 and COL1A2, the genes encoding collagen type I alpha chains.[5] of the patients with moderate and severe forms of OI, 20% have mutations other than COL1A1 and COL1A2. Craniofacial and dentoalveolar abnormalities are present in mild, moderate, and severe types of OI. OI type III n (female/male) Age (mean Æ SD; years) Height Z-score (mean Æ SD) Weight Z-score (mean Æ SD). AThe p value was calculated using chi-square test. bThe p value was calculated using unpaired t test for normally distributed data.
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