Abstract
Skeletal dysplasias are a diverse group of conditions with altered cartilage and bone development, therefore presenting unique cervical spine pathology and management challenges. A number of findings pose risk of quadriplegia or sudden death as early as the first year of life, necessitating an understanding of the diagnosis and natural history of these various disorders. This chapter aims to provide a framework to assess and manage cervical spine problems of the more common skeletal dysplasias.
References
Hall CM. International nosology and classification of constitutional disorders of bone. Am J Med Genet. 2002;113(1):65–77.
Kulkarni MV, Williams JC, Yeakley JW, Andrews JL, McArdle CB, Narayana PA, et al. Magnetic resonance imaging in the diagnosis of the cranio-cervical manifestations of the mucopolysaccharidoses. Magn Reson Imaging. 1987;5(5):317–23.
Hughes DG, Chadderton RD, Cowie RA, Wraith JE, Jenkins JP. MRI of the brain and craniocervical junction in Morquio’s disease. Neuroradiology. 1997;39(5):381–5.
Thorne JA, Javadpour M, Hughes DG, Wraith E, Cowie RA. Craniovertebral abnormalities in type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome). Neurosurgery. 2001;48(4):849–52.
Pauli RM, Scott CI, Wassman ER Jr, Gilbert EF, Leavitt LA, Ver Hoeve J, et al. Apnea and sudden unexpected death in infants with achondroplasia. J Pediatr. 1984;104(3):342–8.
Hecht JT, Francomano CA, Horton WA, Annegers JF. Mortality in achondroplasia. Am J Hum Genet. 1987;41(3):454–64.
Trotter TL, Hall JG, American Academy of Pediatrics Committee on Genetics. Health supervision for children with achondroplasia. Pediatrics. 2005;116(3):771–83.
Pauli RM, Horton VK, Glinksi LP, Reiser CA. Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. Am J Hum Genet. 1995;56(3):732–44.
White KK, Bompadre V, Goldberg MJ, Bober MB, Campbell JW, Cho TJ, et al. Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy. Am J Med Genet A. 2016;170A(1):42–51.
Horton WA, Rotter JI, Rimoin DL, Scott CI, Hall JG. Standard growth curves for achondroplasia. J Pediatr. 1978;93(3):435–8.
Steinbok P, Hall J, Flodmark O. Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension. J Neurosurg. 1989;71(1):42–8.
King JA, Vachhrajani S, Drank JM, Rutka JT. Neurosurgical implications of achondroplasia. J Neurosurg Pediatr. 2009;4(4):297–306.
Sawin PD, Menezes AH. Basilar invagination in osteogenesis imperfecta and related osteochondrodysplasias:medical and surgical management. J Neurosurg. 1997;86(6):950–60.
Labauge R, Marty-Double C, Pages M, Tannier C, Boogers F. Cleido-cranial dysostosis with malformation of the cervico-occipital junction. Rev Neurol (Paris). 1982;138(4):327–36. French.
Kreiborg S, Jensen BL, Bjork A, Skieller V. Abnormalities of the cranial base in cleidocranial dysostosis. Am J Orthod. 1981;79(5):549–57.
Sawin PD, Menezes AH. Basilar invagination in osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management. J Neurosurg. 1997;86(6):950–60.
Gholve PA, Hosalkar HS, Ricchetti ET, Pollock AN, Dormans JP, Drummond DS. Occipitalization of the atlas in children. Morphologic classification, associations, and clinical relevance. J Bone Joint Surg Am. 2007;89(3):571–8.
Merrill KD, Schmidt TL. Occipitoatlantal instability in a child with Kniest syndrome. J Pediatr Orthop. 1989;9(3):338–40.
Stevens JM, Kendall BE, Crockard HA, Ransford A. The odontoid process in Morquio-Brailsford’s disease. The effects of occipitocervical fusion. J Bone Joint Surg Br. 1991;73(5):851–8.
Mason DE, Sanders JO, Mackenzie WG, Nakata Y, Winter R. Spinal deformity in chondrodysplasia punctata. Spine. 2002;27(18):1995–2002.
Shetty GM, Song HR, Unnikrishnan R, Suh SW, Lee SH, Hur CY. Upper cervical spine instability in pseudoachondroplasia. J Pediatr Orthop. 2007;27(7):782–7.
Nelson J, Thomas PS. Clinical findings in 12 patients with MPS IV A (Morquio’s disease): further evidence for heterogeneity. Part III: odontoid dysplasia. Clin Genet. 1988;33(2):126–30.
Koptis SE. Orthopaedic complications of dwarfism. Clin Orthop Relat Res. 1976;114:153–79.
Lipson SJ. Dysplasia of the odntoid process in Morquio’s syndrome causing quadriparesis. J Bone Joint Surg Am. 1977;59:340–4.
Ransford AO, Crockard HA, Stevens JM, Modaghegh S. Occipito-atlanto-axial fusion in Morquio-Brailsford syndrome: a ten-year experience. J Bone Joint Surg Br. 1996;78(2):307–13.
Miyoshi K, Nakamura K, Haga N, Mikami Y. Surgical treatment for atlantoaxial subluxation with myelopathy in spondyloepiphyseal dysplasia congenita. Spine. 2004;29(21):E488–91.
Richards BS. Atlanto-axial instability in diastrophic dysplasia: a case report. J Bone Joint Surg Am. 1991;73:614–6.
Bethem D, Winter RB, Lutter L. Disorders of the spine in diastrophic dwarfism. J Bone Joint Surg Am. 1980;62(4):529–36.
Pueschel SM, Herndon JH, Gelch MM, Senft KE, Scola FH, Goldberg MJ. Symptomatic atlantoaxial subluxation in persons with Down syndrome. J Pediatr Orthop. 1984;4(6):682–8.
Leet AI, Sampath JS, Scott CI Jr, Mackenzie WG. Cervical spinal stenosis in metatropic dysplasia. J Pediatr Orthop. 2006;26(3):347–52.
Mackenzie WG, Dhawale AA, Demczko MM, Ditro C, Rogers KJ, Bober MB, et al. Flexion-extension cervical spine MRI in children with skeletal dysplasia: is it safe and effective? J Pediatr Orthop. 2013;33(1):91–8.
Magerl F, Seeman P. Stable posterior fusion of the atlas and axis by transarticular screw fixation. In: Kehr P, Weidner A, editors. Cervical spine. Berlin: Springer; 1986. p. 322–7.
Harms J, Melcher RP. Posterior C1-C2 fusion with polyaxial screw and rod fixation. Spine. 2001;26(22):2467–71.
Brooks AL, Jenkins EB. Atlanto-axial arthrodesis by the wedge compression method. J Bone Joint Surg Am. 1987;60(3):279–84.
Dickman CA, Sonntag VK. Wire fixation for the cervical spine: biochemical principles and surgical techniques. BNI Q. 1993;9:2–16.
Sitoula P, Mackenzie WG, Shah SA, Thacker M, Ditro C, Holmes L Jr, et al. Occipitocervical fusion in skeletal dysplasia: a new surgical technique. Spine. 2014;39(15):E912–8.
Koop SE, Winter RB, Lonstein JE. The surgical treatment of instability of the upper part of the cervical spine in children and adolescents. J Bone Joint Surg Am. 1984;66(3):403–11.
McKay SD, Al-Omari A, Tomlinson LA, Dormans JP. Review of cervical spine anomalies in genetic syndromes. Spine. 2012;37(5):E269–77.
Piccirilli CB, Chadduck WB. Cervical kyphotic myelopathy in a child with Morquio syndrome. Childs Nerv Syst. 1996;12(2):114–6.
Remes V, Marttinen E, Poussa M, Kaitila I, Peltonen J. Cervical kyphosis in diastrophic dysplasia. Spine (Phila Pa 1976). 1999;24(19):1990–5.
Remes V, Tervahartiala P, Poussa M, Peltonen J. Thoracic and lumbar spine in diastrophic dysplasia: a clinical and magnetic resonance imaging analysis. Spine (Phila Pa 1976). 2001;26(2):187–95.
Poussa M, Merikanto J, Ryoppy S, Marttinen E, Kaitila I. The spine in diastrophic dysplasia. Spine (Phila Pa 1976). 1991;16(8):681–7.
Roopesh Kumar VR, Madhguiri VS, Sasidharan GM, Gundamaneni SK, Yadav AK. Larsen syndrome with C3-C4 spondyloptosis and atlantoaxial dislocation in an adult. Spine (Phila Pa 1976). 2013;38(1):E43–7.
Johnston CE 2nd, Birch JG, Daniels JL. Cervical kyphosis in patients who have Larsen syndrome. J Bone Joint Surg Am. 1996;78(4):538–45.
Sakaura H, Matsuoka T, Iwasaki M, Yonenobu K, Yoshikawa H. Surgical treatment of cervical kyphosis in Larsen syndrome: report of 3 cases and review of the literature. Spine (Phila Pa 1976). 2007;32(1):E39–44.
Baratela WA, Bober MB, Thacker MM, Belthur MV, Oto M, Rogers KJ, et al. Cervicothoracic myelopathy in children with Morquio syndrome A: a report of 4 cases. J Pediatr Orthop. 2014;34(2):223–8.
Violas P, Fraisse B, Chapuis M, Bracq H. Cervical spine stenosis in chondrodysplasia punctata. J Pediatr Orthop B. 2007;16(6):443–5.
Montano AM, Tomatsu S, Gottesman GS, Smith M, Orii T. International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis. 2007;30(2):165–74.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2018 Springer Science+Business Media LLC
About this chapter
Cite this chapter
Bauer, J.M., Mackenzie, W. (2018). Dysplasias in the Child’s Cervical Spine. In: Hedequist, D., Shah, S., Yaszay, B. (eds) The Management of Disorders of the Child’s Cervical Spine. Springer, Boston, MA. https://doi.org/10.1007/978-1-4939-7491-7_10
Download citation
DOI: https://doi.org/10.1007/978-1-4939-7491-7_10
Published:
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4939-7489-4
Online ISBN: 978-1-4939-7491-7
eBook Packages: MedicineMedicine (R0)