ABSTRACT
INTRODUCTION: 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. OBJECTIVE: To assess cranio-cervical anomalies and associated clinical findings in patients with moderate-to-severe OI using 3D cone beam computed tomography (CBCT) scans. METHODS: 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). RESULTS: 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. CONCLUSION: 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.
Subject(s)
Osteogenesis Imperfecta , Platybasia , Female , Humans , Male , Adolescent , Child , Young Adult , Adult , Osteogenesis Imperfecta/diagnostic imaging , Osteogenesis Imperfecta/genetics , Osteogenesis Imperfecta/complications , Platybasia/complications , Cross-Sectional Studies , Genotype , Phenotype , Mutation , Collagen Type I/geneticsABSTRACT
SUMMARY: Lingual foramina and canals are located in the midline of the jaw, which are important due to their neurovascular content. The location of the lingual foramina and canals can be classified according to their relationship to the mental spines; upper, middle or lower. The objective of the study was to determine the prevalence, size and anatomic location of the lingual foramina and canals and in patients older than 18 years of age that were patients at the Universidad de Los Andes, Dentistry Clinic, San Bernardo, Santiago, Chile. Furthermore, to establish sex differences regarding the presence, location and diameter of lingual foramina. From the sample total, 296 foramina were found, from which 133 (45 %) were upper foramina, 43 (15 %) middle foramina and 120 (40 %) lower foramina. In both sexes the prevalence of upper foramina was higher. Regarding the vertical diameter of the foramina, the median of the upper foramina was 0.76 mm, the median of the middle foramina was 0.52 mm and the median of the lower foramina was 0.55 mm. As for the length of the lingual canals, the middle canal was the largest (7.48 mm), followed by the upper (7.53 mm) and the lower (6.83 mm). There was no statistically significant difference between sexes regarding the amount and size of the lingual foramina, neither regarding the size and age of the patients, but there was a difference between the lengths of the canals, being the male patients the ones that presented longer canals in the 3 different kinds. Because of the high prevalence of foramina and canals in the sample, it is recommended to consider them in the planning of surgical procedures on the mandible midline.
RESUMEN: Las foraminas y canales linguales están localizados en la línea media mandibular, los cuales son relevantes dado a su componente neurovascular. Las foraminas linguales pueden ser clasificadas según su localización respecto a las espinas mentonianas pudiendo ser supraespinosas, interespinosas e infraespinosas. El objetivo del trabajo fue determinar la prevalencia, tamaño y relación anatómica de foraminas y canales linguales en pacientes mayores de 18 años de edad que hayan sido tratados en el centro odontológico de la Universidad de Los Andes, San Bernardo, Chile. Además establecer diferencias de sexo en cuanto a la presencia de foraminas linguales, ubicación y diámetro. Del total de la muestra, 296 foraminas fueron encontradas de las cuales 133 (45 %) eran supraespinosas, 43 (15 %) intraespinosas y 120 (40 %) infraespinosas. En ambos sexos la prevalencia de las supraespinosas fue mayor. Respecto al diámetro vertical de las foraminas, la mediana de diámetro para la supraespinosa fue de 0,76 mm, de la intraespinosa fue de 0,52 mm y de la infraespinosa fue de 0,55 mm. Respecto a la longitud de los canales linguales, el canal intraespinoso fue el más largo (7,48 mm), seguido por el supraespinoso (7,53 mm) y finalmente el infraespinoso (6,83 mm). No había una diferencia estadísticamente significativa entre sexos respecto a la cantidad y tamaño de las foraminas linguales. Tampoco lo hubo respecto al diámetro de los canales y la edad de los pacientes. Sin embargo, si lo hubo respecto a la longitud de los canales, siendo los pacientes masculinos lo que presentaban los canales más largos. Debido a la alta prevalencia de las foraminas y canales linguales en la muestra es recomendado considerarles en los planes de tratamiento de procedimientos quirúrgicos en la línea media mandibular.
