Prevalence and natural course of craniocervical junction anomalies during growth in patients with osteogenesis imperfecta

• Published in: Journal of bone and mineral research Vol. 27; no. 5; pp. 1142 - 1149
• Main Authors: Arponen, Heidi, Mäkitie, Outi, Haukka, Jari, Ranta, Helena, Ekholm, Marja, Mäyränpää, Mervi K, Kaitila, Ilkka, Waltimo-Sirén, Janna
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.05.2012; Wiley; Wiley Subscription Services, Inc
• Subjects: Adolescent; Adult; Age; BASILAR IMPRESSION; BASILAR INVAGINATION; Biological and medical sciences; Case-Control Studies; Child; Child, Preschool; CRANIOCERVICAL JUNCTION; Data processing; Female; Fundamental and applied biological sciences. Psychology; Humans; Infant; Infant, Newborn; Invaginations; Longitudinal Studies; Magnetic resonance imaging; Male; Medicin och hälsovetenskap; OSTEOGENESIS IMPERFECTA; Osteogenesis Imperfecta - pathology; Osteogenesis Imperfecta - physiopathology; PLATYBASIA; Radiography; Retrospective Studies; Risk factors; Skeleton and joints; Skull; Skull Base - pathology; Vertebrates: osteoarticular system, musculoskeletal system; Human; Prevalence; Growth; CRANIOCERVICAL JUNCTION; Diseases of the osteoarticular system; BASILAR INVAGINATION; Genetic disease; BASILAR IMPRESSION; Osteoarticular system; Vertebrata; Mammalia; Osteogenesis imperfecta; Osteochondrodysplasia; PLATYBASIA
• ISSN: 0884-0431; 1523-4681; 1523-4681
• DOI: 10.1002/jbmr.1555

Pathology in the craniocervical junction is a serious complication of osteogenesis imperfecta (OI). Our aim was to analyze the prevalence and natural course of craniocervical junction anomalies in patients with OI during growth. In a one‐center retrospective study, we analyzed lateral skull radiographs and midsagittal magnetic resonance images of 76 patients with either type I, III, or IV OI. The material included longitudinal series of 31 patients. In total, 150 patient images taken at ages 0 to 39 years were analyzed and compared with age‐matched control data. Craniocervical anomalies were observed in 37% of patients and in all OI types studied. Of the three types of anomalies, basilar invagination was seen in 13%, basilar impression in 15%, and platybasia in 29% of the patients. From those with an abnormal finding, 44% displayed more than one type of anomaly. At a group level, we found no evidence of progression of craniocervical junction pathology with age. We provide longitudinal and cross‐sectional data on craniocervical junction dimensions in growing patients with OI and, based on those, suggest a radiological management strategy for diagnosis of cranial base pathology. A higher risk of having any of the pathological conditions was associated with a lower height Z‐score. Careful follow‐up of cranial base anomalies particularly in subjects with OI and severe growth failure is warranted. © 2012 American Society for Bone and Mineral Research.