Spinal manifestations of skeletal dysplasias

Orthopedic Clinics of North America

Volumn 30, Issue 3, 1999, Pages 501-520

  Kornblum, M ^a   Stanitski, D F ^a  

^a MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACHONDROPLASIA; BONE DYSPLASIA; BRACE; CERVICAL SPINE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE CLASSIFICATION; DWARFISM; FORAMEN MAGNUM; HUMAN; INSTRUMENTATION; KYPHOSIS; MARFAN SYNDROME; MORQUIO SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOGENESIS IMPERFECTA; PRIORITY JOURNAL; REVIEW; SCOLIOSIS; SPINAL CORD COMPRESSION; SPINE INSTABILITY; SPINE MALFORMATION; SPINE SURGERY; SPONDYLOEPIPHYSEAL DYSPLASIA; VERTEBRAL CANAL STENOSIS;

EID: 0032806551     PISSN: 00305898     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0030-5898(05)70102-4     Document Type: Article

References (119)

1. J.A. Albright Management overview of osteogenesis imperfecta Clin Orthop 159 1981 80 87
2. Amis J, Herring JA: Iatrogenic kyphosis: A complication of Harrington instrumentation in Marfan's syndrome. J Bone Joint Surg Am 66:460–464
3. R.E. Anderson C. Grondin K. Amplatz The mitral valve in Marfan's syndrome Radiology 91 1968 910 916
4. J. Aryanpur H. Orest C. Francomano Craniovical decompression for cervicomedullary compression in pediatric patients with schondroplasia J Neurosurg 73 1990 375 382
5. J. Ashraf H.A. Crockard A.O. Ransford Transoral decompression and posterior stabilization in Morquio's disease Arch Dis Child 66 1991 1318 1321
6. J.A. Bailey Orthopaedic aspects of achondroplasia J Bone Joint Surg Am 52 1970 1285 1301
7. E. Baker X.H. Gua A.M. Orsborn The Morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3 Am J Hum Genet 52 1993 96 98
8. G.S. Bassett Orthopaedic aspects of skeletal dysplasias Instr Course Lect 39 1990 381 387
9. B. Batthgate Scoliosis in osteogenesis imperfecta Spine State Art Rev 4 1990 121 130
10. R.K. Beals W. Horton Skeletal dysplasias: An approach to diagnosis J Am Acad Orthop Surg 3 1995 174 181
11. M. Beck J. Glossl A. Grubisic Heterogeneity of Morquio disease Clin Genet 29 1986 325 331
12. P. Beighton J. Craig Atlanto-axial subluxation in the Morquio syndrome J Bone Joint Surg Am 55 1973 478 481
13. P. Beighton J. Spranger G. Versveld Skeletal complications in osteogenesis imperfecta South Afr Med J 64 1983 565 568
14. D.R. Benson D.H. Donaldson E.A. Millar The spine in osteogenesis imperfecta J Bone Joint Surg Am 60 1978 925 929
15. D.R. Benson D.C. Newman The spine and surgical treatment in osteogenesis imperfecta Clin Orthop 159 1981 147 153
16. D. Bethem R.B. Winter L. Lutter Disorders of the spine in diastrophic dwarfism J Bone Joint Surg Am 62 1980 529 536
17. D. Bethem R.B. Winter L. Lutter Spinal disorders of dwarfism: Review of the literature and report of eighty cases J Bone Joint Surg Am 63 1981 1412 1425
18. J.G. Birch J.A. Herring Spinal deformity in Marfan syndrome J Pediatr Orthop 7 1987 546 552
19. M.E. Blaw L.O. Langer Spinal cord compression in Morquio-Brailsford's disease J Pediatr 74 1969 593 600
20. R.J. Boucek N.L. Noble Z. Gunja-Smith The Marfan syndrome: A deficiency in chemically stable cross-links N Engl J Med 305 1981 988 991
21. D.H. Bowden B.E. Favara J.I. Donahue Marfan's syndrome: Accelerated course in childhood associated with lesions of mitral valve and pulmonary artery. Am Heart J 69 1965 96 99
22. M.D. Briggs I.M. Rasmussen J.L. Weber Genetic linkage of mild pseudoachondroplasia to markers in the pericentromeric region of chromosome 19 Genomics 18 1993 656 660
23. R.R. Cooper I.V. Ponseti J.A. Maynard Pseudoachondroplastic dwarfism: A rough-surfaced endoplasmic reticulum storage disorder J Bone Joint Surg Am 55 1973 475 484
24. R.L. Cristofaro K.J. Hoek C.A. Bonnett Operative treatment of spine deformities in osteogenesis imperfecta Clin Orthop 139 1979 40 48
25. H.C. Dietz G.R. Cutting R.E. Pyeritz Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene Nature 352 1991 337 339
26. M.K. Edwards D.C. Harwood-Nash C.R. Fitz CT metrizamide myelography of the cervical spine in Morquio syndrome AJNR Am J Neuroradiol 3 1982 666 669
27. A. Fortuna L. Ferrante M. Acqui Narrowing of the thoraco-lumbar spinal canal in achondroplasia J Neurosurg Sci 33 1989 185 196
28. S. Gitelis J. Whiffen R.L. DeWald The treatment of severe scoliosis in osteogenesis imperfecta: Case report Clin Orthop 175 1983 5659
29. M.J. Goldberg Orthopedic aspects of bone dysplasias Orthop Clin North Am 7 1976 445 456
30. R.L. Golden H. Lakin The forme fruste in Marfan's syndrome N Engl J Med 260 1959 16
31. J.G. Hall Kyphosis in achondroplasia: Probably preventable J Pediatr 112 1988 166 167
32. D.A. Hanscom B.A. Bloom The spine in osteogenesis imperfecta Orthop Clin North Am 19 1988 449 458
33. D.A. Hanscom R.B. Winter L. Lutter Osteogenesis imperfecta: Radiographic classification, natural history, and treatment of spinal deformities J Bone Joint Surg Am 74 1992 598 616
34. K.L. Harkens G.Y. El-Khoury Intrasacral meningocele in a patient with Marfan syndrome Spine 15 1990 610 612
35. H.L. Harkey H.A. Crochard J.M. Stevens The operative management of basilar impression in osteogenesis imperfecta Neurosurgery 27 1990 782 786
36. J.T. Hecht C.A. Francomano W.A. Horton Mortality in achondroplasia Am J Hum Genet 41 1987 454 464
37. J.T. Hecht W.A. Horton C.S. Reid Growth of the foramen magnum in achondroplasia Am J Med Genet 32 1989 528 535
38. J.T. Hecht F.W. Nelson I.J. Butler Computerized tomography of the foramen magnum: Achondroplastic values compared to normal standards Am J Med Genet 20 1985 355 360
39. J.T. Hecht N.M. Thompson T. Weir Cognitive and motor skills in achondroplastic infants: Neurologic and respiratory correlates Am J Med Genet 41 1991 208 211
40. R.N. Hensinger Kyphosis secondary to skeletal dysplasias and metabolic disease Clin Orthop 128 1977 113 128
41. J.A. Herring The spinal disorders in diastrophic dwarfism J Bone Joint Surg Am 60 1978 177 182
42. L.D. Herron E.G. Dawson Methylmethacrylate as an adjunct in spinal instrumentation J Bone Joint Surg Am 59 1977 866 868
43. W.R. Hobbs P.D. Sponseller A.P. Weiss The cervical spine in Marfan syndrome Spine 22 1997 983 989
44. D.G. Hughes R.D. Chadderton R.A. Cowle MRI of the brain and craniocervical junction in Morquio's disease Neuroradiology 39 1997 381 385
45. S. Ishikawa S.J. Kumar H.E. Takahashi Vertebral body shape as a predictor of spinal deformity in osteogenesis imperfecta J Bone Joint Surg Am 78 1996 212 219
46. K.N. Joseph H.A. Kane R.S. Milner Orthopedic aspects of the Marfan phenotype Clin Orthop 277 1992 251 261
47. M. Kahanovitz D.L. Rimoin D.O. Sillence The clinical spectrum of lumbar spine disease in achondroplasia Spine 7 1982 137 140
48. I.J. Kash S.M. Sane F.J. Samaha Cervical cord compression in diastrophic dwarfism J Pediatr 84 1974 862 864
49. M.K. Keech V.B. Wendt R.C. Read Family studies of the Marfan syndrome J Chronic Dis 19 1966 57 83
50. T.E. Kelly The mucopolysaccharidoses and mucolipidoses Clin Orthop 114 1976 116 136
51. J.D. King W.P. Bobechko Osteogenesis imperfecta, an orthopaedic description and surgical review J Bone Joint Surg Br 53 1971 72 89
52. S.E. Kopits Orthopedic complications of dwarfism Clin Orthop 114 1976 153 179
53. S.E. Kopits M.N. Perovic V. McKusick Congenital atlantoaxial dislocations in various forms of dwarfism J Bone Joint Surg Am 54 1972 1349 1350
54. L.O. Langer Jr L.S. Carey The roentgenographic features of the KS-mucopolysaccharidosis of Morquio (Morquio-Brailsford's disease) AJR Am J Roentgenol 47 1966 1 20
55. B. Lee M. Godfrey E. Vitale Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes Nature 352 1991 330 334
56. B. Levander A. Mellstrom A. Grepe Atlantoaxial instability in Marfan's syndrome: Diagnosis and treatment Neuroradiology 21 1981 43 46
57. A. Linker L.R. Evans L.O. Langer Morquio's disease and mucopolysaccharide excretion J Pediatr 77 1970 1039 1047
58. S.J. Lipson Dysplasia of the odontoid process in Morquio's syndrome causing quadriparesis J Bone Joint Surg Am 59 1977 340 344
59. L.D. Lutter L.O. Langer Neurologic symptoms in achondroplastic dwarfs—surgical treatment J Bone Joint Surg Am 59 1977 87 92
60. L.D. Lutter J.E. Lonstein R.B. Winter Anatomy of the achondroplastic lumbar canal Clin Orthop 126 1977 139 142
61. C.L. Maslen G.M. Corson B.K. Maddox Partial sequence of a candidate gene for the Marfan syndrome Nature 352 1991 334 337
62. V.A. McKusick The defect in Marfan syndrome Nature 352 1991 279 281
63. M. Mikles R.P. Stanton A review of Morquio syndrome Am J Orthop 26 1997 533 540
64. C.M. Minch R.W. Kruse Osteogenesis imperfecta: A review of basic science and diagnosis DuPont Hospital for Children Editorial 21 1998 558 565
65. J.L. Murdoch B.A. Walker B.I. Halpern Life expectancy and causes of death in the Marfan syndrome N Engl J Med 286 1972 804 808
66. J. Nelson D. Broadhead J. Mossman Clinical findings in 12 patients with MPS IV A (Morquio's disease): Further evidence for heterogeneity: I. Clinical and biochemical findings Clin Genet 33 1988 111 120
67. J. Nelson P.S. Thomas Clinical findings in 12 patients with MPS IV A (Morquio's disease): Further evidence for heterogeneity. Part III: Odontoid dysplasia Clin Genet 33 1988 126 130
68. J.D. Nelson The Marfan syndrome with special reference to congenital enlargement of the spinal canal Br J Radiol 31 1958 561 564
69. W.F. Nelson W.D. Goldie J.T. Hecht Short latency somatosensory evoked potentials in the management of patients with achondroplasia Neurology 34 1984 1053 1058
70. H. Norimatsu T. Myuaumi H. Takahashi The development of spinal deformities in osteogenesis imperfecta Clin Orthop 162 1982 20 25
71. F.V. Orcutt R.L. DeWald The special problems which the Marfan syndrome introduces to scoliosis J Bone Joint Surg Am 56 1974 1763
72. R.M. Pauli C.I. Scott E.R. Wassman Jr Apnea and sudden unexpected death in infants with achondroplasia J Pediatr 104 1984 342 348
73. A. Pedrini-Mille J.A. Maynard V.A. Pedrini Pseudoachondroplasia: Biochemical and histochemical studies of cartilage J Bone Joint Surg Am 66 1984 1408 1414
74. M. Pousa J. Merikanto S. Ryoeppy The spine in diastrophic dysplasia Spine 16 1991 881 887
75. J.L. Pozo H.A. Crockard A.O. Ransford Basilar impression in osteogenesis imperfecta: A report of three cases in one family J Bone Joint Surg Br 66 1984 233 238
76. R.E. Pyeritz E.K. Fishman B.A. Bernhardt Dural ectasia is a common feature of the Marfan syndrome Am J Hum Genet 43 1988 726 732
77. R.E. Pyeritz V.A. McKusick Medical intelligence: Current concepts. The Marfan syndrome: Diagnosis and management N Engl J Med 300 1979 772 777
78. R.E. Pyeritz G.H. Sack G.B. Udvarhelyi Thoracolumbosacral laminectomy in achondroplasia: Long term results in 22 patients Am J Med Genet 28 1987 433 444
79. A.O. Ransford H.A. Crockard J.M. Stevens Occipito-atlanto fusion in Morquio-Brailsford syndrome J Bone Joint Surg Br 78 1996 307 313
80. C.S. Reid R.E. Pyeritz S.E. Kopitz Cervicomedullary compression in young patients with achondroplasia: Value of comprehensive neurologic and respiratory evaluation J Pediatr 110 1987 522 530
81. T. Renshaw R. Cook J. Albright Scoliosis in osteogenesis imperfecta Clin Orthop 145 1979 163 167
82. B.S. Richards Atlanto-axial instability in diastrophic dysplasia: A case report J Bone Joint Surg Am 73 1991 614 616
83. P.R. Robins J.H. Moe R.B. Winter Scoliosis in Marfan's syndrome: Its characteristics and results of treatment in thirty-five patients J Bone Joint Surg Am 57 1975 358 368
84. R. Savini S. Cervellati E. Beroaldo Spinal deformities in Marfan's syndrome Ital J Orthop Traumatol 6 1980 19 40
85. E.A. Schenk J. Haggerty Morquio's disease: A radiologic and morphologic study Pediatrics 34 1964 839 850
86. A.A. Siebens D.S. Hungerford N.A. Kirby Achondroplasia: Effectiveness of an orthosis in reducing deformity of the spine Arch Phys Med Rehabil 68 1987 384 388
87. A.A. Siebens D.S. Hungerford N.A. Kirby Curves of the achondroplastic spine: A new hypothesis Johns Hopkins Med J 142 1978 205 210
88. A.A. Siebens N. Kirby D.S. Hungerford Orthotic correction of sitting abnormality in achondroplastic children. Human Achondroplasia: A Multidisciplinary Approach. 1988 Plenum Press New York 313 320
89. D. Sillence Osteogenesis imperfecta: An expanding panorama of variants Clin Orthop 159 1981 11 24
90. D.O. Sillence Craniocervical abnormalities in osteogenesis imperfecta: Genetic and molecular correlation Pediatr Radiol 24 1994 427 430
91. D.O. Sillence A. Senn D.M. Danks Genetic heterogeneity in osteogenesis imperfecta J Med Genet 16 1979 101 116
92. J.G. Sinclair A.H. Kitchin W.D. Turner The Marfan syndrome QJM 113 1960 19 46
93. J. Singh N.D. Di Ferrante P. Niebes N -Acetylgalactosamine-6-sulfate sulfatase in man: Absence of the enzyme in Morquio disease J Clin Invest 57 1976 1036 1040
94. M.D. Smith Large sacral dural defect in Marfan syndrome: A case report J Bone Joint Surg Am 75 1993 1067 1070
95. P.D. Sponseller W. Hobbs H.R. Lee The thoracolumbar spine in Marfan syndrome J Bone Joint Surg Am 77 1995 867 876
96. J.W. Spranger L.O. Langer Jr Spondyloepiphyseal dysplasia congenita Radiology 94 1970 313 322
97. W.F. Stern Dural ectasia and the Marfan syndrome J Neurosurg 69 1988 221 227
98. J.M. Stevens B.E. Kendall H.A. Crockard The odontoid process in Morquio-Brailsford's disease: The effects of occipitocervical fusion J Bone Joint Surg Br 73 1991 851 858
99. O. Svensson S. Aaro Cervical instability in skeletal dysplasia: Report of six surgically fused cases Acta Orthop Scand 59 1988 66 70
100. E. Takeda T. Hashimoto M. Tayama Diagnosis of atlantoaxial subluxation in Morquio's syndrome and spondyloepiphyseal dysplasia congenita Acta Paediatr Jpn 33 1991 633 638
101. K. Tallroth A. Malmivaara M.L. Laitinen Lumbar spine in Marfan syndrome Skeletal Radiol 24 1995 337 340
102. L.J. Taylor Severe spondylolisthesis and scoliosis in association with Marfan's syndrome: Case report and review of the literature Clin Orthop 221 1987 207 211
103. I.T. Thomas J.L. Frias J.L. Williams Magnetic resonance imaging in the assessment of medullary compression in achondroplasia Am J Dis Child 142 1988 989 992
104. A.B. Todorov C.I. Scott A.F. Warren Developmental screening tests in achondroplastic children Am J Med Genet 9 1981 19 23
105. V.T. Tolo Spinal deformity in short-stature syndromes Instr Course Lect 39 1990 399 405
106. V.T. Tolo Surgical treatment of kyphosis in achondroplasia. Human Achondroplasia: A multidisciplinary Approach. 1986 Plenum Press New York 257 259
107. V.T. Tolo S.E. Kopits Spinal deformity in diastrophic dysplasia Orthop Trans 7 1983 31 32
108. B.A. Walker C.I. Scott J.G. Hall Diastrophic dwarfism Medicine 51 1972 41
109. H. Wang A.E. Rosenbaum C.S. Reid Pediatric patients with achondroplasia: CT evaluation of the craniocervical junction Radiology 164 1987 515 519
110. A. Weinfeld M.W. Ross S.H. Sarasohn Spondylo-epiphyseal dysplasia tarda: A cause of premature osteoarthritis AJR Am J Roentgenol 101 1967 851 859
111. H.I. Wilner N. Finby Skeletal manifestations in the Marfan Syndrome JAMA 187 1964 490 495
112. D.W. Wilson A.R. Chrispin C.O. Carter Diastrophic dwarfism Arch Dis Child 44 1969 48 58
113. R.B. Winter Severe spondylolisthesis in Marfan's syndrome: Report of two cases J Pediatr Orthop 2 1982 51 55
114. R.B. Winter Thoracic lordoscoliosis in Marfan's syndrome: Report of two patients with surgical correction using rods and sublaminar wires Spine 15 1990 233 235
115. R.B. Winter J.A. Herring Kyphosis in an achondroplastic dwarf J Pediatr Orthop 3 1983 250 252
116. R. Wynne-Davies J. Gormley Clinical and genetic patterns in osteogenesis imperfecta Clin Orthop 159 1981 26 35
117. R. Wynne-Davies C. Hall Two clinical variants of spondylo-epiphysial dysplasia congenita J Bone Joint Surg Br 64 1982 435 441
118. H. Yamada A. Nakamura X. Tajima Neurological manifestations of pediatric achondroplasia J Neurosurg 54 1981 49 57
119. K. Yon-Hing G.D. MacEwen Scoliosis associated with osteogenesis imperfecta J Bone Joint Surg Br 64 1982 36 43