K Ludwig1,2, C Seiltgens1,2, A Ibba1,2, N Saran1,3,4, J A Ouellet1,3,4, F Glorieux1,2,4, F Rauch5,6. 1. Shriners Hospitals for Children, 1003 Boulevard Decarie, Montreal, QC, H4A 0A9, Canada. 2. Department of Pediatrics, McGill University, Montreal, QC, Canada. 3. Department of Pediatric Surgery, McGill University, Montreal, QC, Canada. 4. Department of Surgery, Division of Orthopaedic Surgery, McGill University, Montreal, QC, Canada. 5. Shriners Hospitals for Children, 1003 Boulevard Decarie, Montreal, QC, H4A 0A9, Canada. frauch@shriners.mcgill.ca. 6. Department of Pediatrics, McGill University, Montreal, QC, Canada. frauch@shriners.mcgill.ca.
Abstract
Craniocervical abnormalities in osteogenesis imperfecta (OI) such as basilar invagination or cervical kyphosis can cause severe neurological morbidity. These abnormalities may be more frequent in OI type V compared with other OI subtypes of similar disease severity, underlining the importance of screening in this group. INTRODUCTION: Craniocervical abnormalities in osteogenesis imperfecta (OI) can cause severe neurological morbidity. Although radiological cranial base abnormalities in OI have been well described in the literature, there are limited data on these abnormalities in OI type V and their association with clinical sequelae. METHODS: A retrospective case series on patients with craniocervical abnormalities in OI type V at our institution. RESULTS: Craniocervical abnormalities were present in 7 of 37 patients with OI type V (19%). For 5 patients (age at last follow-up: 5 to 26 years; 2 females), sufficient information was available for inclusion in the case series. All had genetically confirmed OI type V. Age range at diagnosis of the craniocervical abnormality was 1 day to 18 years. Basilar invagination was present in 3 patients; 2 had cervical kyphosis. Dysplasia of upper cervical vertebrae or base of skull was seen in 3 patients. The severity of the craniocervical abnormality did not clearly correlate with the severity of the OI phenotype. Three patients required surgical intervention (ages 7, 11, and 26 years) due to compression of the spinal cord or brainstem. Craniocervical abnormalities were detected incidentally or on screening in 3 patients, and only 2 had significant positive findings on neurological examination. CONCLUSION: A variety of craniocervical abnormalities are seen in OI type V including dysplasia of the cervical vertebrae. These cases highlight the importance of screening patients with OI type V with lateral skull and cervical spine x-rays throughout childhood and after skeletal maturity.
Craniocervical abnormalities in osteogenesis imperfecta (OI) such as basilar invagination or cervical kyphosis can cause severe neurological morbidity. These abnormalities may be more frequent in OI type V compared with other OI subtypes of similar disease severity, underlining the importance of screening in this group. INTRODUCTION: Craniocervical abnormalities in osteogenesis imperfecta (OI) can cause severe neurological morbidity. Although radiological cranial base abnormalities in OI have been well described in the literature, there are limited data on these abnormalities in OI type V and their association with clinical sequelae. METHODS: A retrospective case series on patients with craniocervical abnormalities in OI type V at our institution. RESULTS: Craniocervical abnormalities were present in 7 of 37 patients with OI type V (19%). For 5 patients (age at last follow-up: 5 to 26 years; 2 females), sufficient information was available for inclusion in the case series. All had genetically confirmed OI type V. Age range at diagnosis of the craniocervical abnormality was 1 day to 18 years. Basilar invagination was present in 3 patients; 2 had cervical kyphosis. Dysplasia of upper cervical vertebrae or base of skull was seen in 3 patients. The severity of the craniocervical abnormality did not clearly correlate with the severity of the OI phenotype. Three patients required surgical intervention (ages 7, 11, and 26 years) due to compression of the spinal cord or brainstem. Craniocervical abnormalities were detected incidentally or on screening in 3 patients, and only 2 had significant positive findings on neurological examination. CONCLUSION: A variety of craniocervical abnormalities are seen in OI type V including dysplasia of the cervical vertebrae. These cases highlight the importance of screening patients with OI type V with lateral skull and cervical spine x-rays throughout childhood and after skeletal maturity.
Authors: Moira S Cheung; Heidi Arponen; Peter Roughley; Michel E Azouz; Francis H Glorieux; Janna Waltimo-Sirén; Frank Rauch Journal: J Bone Miner Res Date: 2011-02 Impact factor: 6.741
Authors: F H Glorieux; F Rauch; H Plotkin; L Ward; R Travers; P Roughley; L Lalic; D F Glorieux; F Fassier; N J Bishop Journal: J Bone Miner Res Date: 2000-09 Impact factor: 6.741
Authors: Alexa Patoine; Marie-Hélène Gaumond; Prashant K Jaiswal; François Fassier; Frank Rauch; Pierre Moffatt Journal: J Bone Miner Res Date: 2014-09 Impact factor: 6.741
Authors: Frank Rauch; Pierre Moffatt; Moira Cheung; Peter Roughley; Liljana Lalic; Allan M Lund; Norman Ramirez; Somayyeh Fahiminiya; Jacek Majewski; Francis H Glorieux Journal: J Med Genet Date: 2013-01 Impact factor: 6.318