Neurosurgical interventions for spondyloepiphyseal dysplasia congenita: Clinical presentation and assessment of the literature

World Neurosurgery

Volumn 80, Issue 3-4, 2013, Pages 437.e1-437.e8

  Veeravagu, Anand ^a   Lad, Shivanand P ^b   Camara Quintana, Joaquin Q ^a   Jiang, Bowen ^a   Shuer, Lawrence ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Cervical stenosis; Spondyloepiphyseal dysplasia; Spondyloepiphyseal dysplasia congenital; Thoracic spine

Indexed keywords

BONE MORPHOGENETIC PROTEIN; TITANIUM;

ADULT; ANATOMICAL VARIATION; ARTHRALGIA; ARTHROPATHY; AUTOGRAFT; BONE MATRIX; BONE SCREW; CARPAL TUNNEL SYNDROME; CASE REPORT; CERVICAL SPINE; COMPUTER ASSISTED TOMOGRAPHY; CRANIOTOMY; DECOMPRESSION SURGERY; DISEASE DURATION; DWARFISM; FOLLOW UP; FORAMEN MAGNUM; GENE MUTATION; HAND PARESTHESIA; HUMAN; HYPOPLASIA; JAW; MALE; NECK; NEUROLOGIC EXAMINATION; NEUROSURGERY; NUCLEAR MAGNETIC RESONANCE IMAGING; ODONTOID PROCESS; OSTEOPENIA; PHYSICAL EXAMINATION; REVIEW; SCOLIOSIS; SPINAL CORD COMPRESSION; SPONDYLOEPIPHYSEAL DYSPLASIA; SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; STENOSIS;

EID: 84885178812     PISSN: 18788750     EISSN: 18788769     Source Type: Journal    
DOI: 10.1016/j.wneu.2012.01.030     Document Type: Review

References (52)

1. M.C. Ain, K.L. Chaichana, J.G. Schkrohowsky Retrospective study of cervical arthrodesis in patients with various types of skeletal dysplasia Spine 31 2006 E169 E174
2. P. Beighton, K. Kozlowski Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis Skeletal Radiol 5 1980 205 212
3. D. Bethem, R.B. Winter, L. Lutter, J.H. Moe, D.S. Bradford, J.E. Lonstein, L.O. Langer Spinal disorders of dwarfism: review of the literature and report of eighty cases J Bone Joint Surg Am 63 1981 1412 1425
4. J.F. Bleasel, A. Bisagni-Faure, D. Holderbaum, M.C. Vacher-Lavenu, T. Haqqi, R.W. Moskowitz, C.J. Menkes Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis J Rhematol 22 1995 255 261
5. J.F. Bleasel, D. Holderbaum, V. Mallock, T. Haqqi, H.J. Williams, R.W. Moskowitz Hereditary osteoarthritis with mild spondyloepiphyseal dysplasia-are there "hot spots" on COL2A1? J Rhematol 23 1996 1594 1598
6. J.F. Bleasel, D. Holderbaum, V. Brancolini, R.W. Moskowitz, E.L. Considine, D.J. Prockop, M. Devoto, C.J. Williams Five families with arginine 519-cysteine mutation in COL2A1: evidence of three distinct founders Hum Mutat 12 1998 172 176
7. J.T. Brookes, R.J. Smith, A.H. Menezes, M.C. Smith Median labiomandibular glossotomy approach to the craniocervical region Childs Nerv Syst 24 2008 1195 1201
8. K.M. Carlson, K.M. Yamaga, K.A. Reinker, Y.E. Hsia, C. Carpenter, L.M. Abe, A.K. Perry, D.A. Person, D.A. Marchuk, E.M. Raney Precocious osteoarthritis in a family with recurrent COL2A1 mutation J Rheumatol 33 2006 1133 1136
9. D. Chan, T.K. Taylor, W.G. Cole Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia J Bio Chem 268 1993 15238 15245
10. D. Chan, W.G. Cole, C.W. Chow, S. Mundlos, J.F. Bateman A COL2A mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagen in cartilage J Biol Chem 270 1995 1747 1753
11. D. Chan, W.G. Cole Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells: application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia J Biol Chem 266 1991 12487 12494
12. L. Chen, W. Yang, W.G. Cole Alternative splicing of exon 12 of the COL2A1 gene interrupts the triple helix of type-II collage in the Kniest form of spondyloepiphyseal dysplasia J Orthop Res 14 1996 712 721
13. L.S. Chitty, A.W. Tan, D.L. Nesbit, C.M. Hall, C.H. Rodeck Sonographic diagnosis of SEDC and double heterozygote of SEDC and achondroplasia-a report of six pregnancies Pregnat Diagn 26 2006 861 865
14. W.G. Cole, R.K. Hall, J.G. Rogers The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen J Med Genet 30 1993 27 35
15. A.K. Gedeon, G.E. Tiller, M. Le Merrer, S. Heuertz, L. Tranebjaerg, D. Chitayat, S. Robertson, I.A. Glass, R. Savarirayan, W.G. Cole, D.L. Rimoin, B.G. Kousseff, H. Ohashi, B. Zabel, A. Munnich, J. Gecz, J.C. Mulley The molecular basis of X-linked spondyloepiphyseal dysplasia tarda Am J Hum Genet 68 2001 1386 1397
16. Y. Gembun, Y. Nakayama, Y. Shirai, M. Miyamoto, T. Sawaizumi, S. Kitamura A case report of spondyloepiphyseal dysplasia congenita J Nippon Med Sch 68 2001 186 189
17. S. Hamidi-Toosi, I.H. Maumenee Vitreoretinal degeneration in spondyloepiphyseal dysplasia congenita Arch Ophthalmol 100 1982 1104 1107
18. C.O. Harding, C.G. Green, W.H. Perloff, R.M. Pauli Respiratory complications in children with spondyloepiphyseal dysplasia congenita Pediatr Pulmonol 9 1990 49 54
19. V. Hintze, A. Steplewski, H. Ito, D.A. Jensen, U. Rodeck, A. Fertala Cells expressing partially unfolded R789C/p.R989C type II procollagen mutant associated with spondyloepiphyseal dysplasia undergo apoptosis Hum Mutat 29 2008 841 851
20. K.P. Hoornaert, C. Dewinter, I. Vereecke, F.A. Beemer, W. Courtens, A. Fryer, H. Fryssira, M. Lees, A. Mullner-Eidenbock, D.L. Rimoin, L. Siderius, A. Superti-Furga, K. Temple, P.J. Willems, A. Zankl, C. Zweier, A. De Paepe, P. Coucke, G.R. Mortier The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene J Med Genet 43 2006 406 413
21. P.A. James, J. Shaw, D. du Sart, E. Craig, J.F. Bateman, R. Savarirayan Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia Prenat Diagn 23 2003 861 863
22. S.C. Jung, S. Mathew, Q.W. Li, Y.J. Lee, K.S. Lee, H.R. Song Spondyloepiphyseal dysplasia congenita with absent femoral head J Pediatr Orthop B 13 2004 63 69
23. M.S. LeDoux, R.C. Naftalis, P.A. Aronin Stabilization of the cervical spine in spondyloepiphyseal dysplasia congenita Neurosurgery 28 1991 580 583
24. B. Lee, H. Vissing, F. Ramirez, D. Rogers, D. Rimoin Identification of the molecular defect in a family with spondyloepiphyseal dysplasia Science 244 1989 978 980
25. B. Lee, H. Vissing, F. Ramirez, D. Rogers, D. Rimoin Molecular characterization of a type II collagen defect in spondyloepiphyseal dysplasia Trans Assoc Am Physicians 102 1989 20 29
26. R.I. Macpherson, B.P. Wood Spondyloepiphyseal dysplasia congenita: a cause of lethal neonatal dwarfism Pediatr Radiol 9 1980 217 224
27. A.H. Menezes, T.W. Vogel Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction Childs Nerv Syst 24 2008 1155 1163
28. K. Miyoshi, K. Nakamura, N. Haga, Y. Mikami Surgical treatment for atlantoaxial subluxation with myelopathy in spondyloepiphyseal dysplasia congenita Spine 29 2004 E488 E491
29. M. Morita, K. Miyamoto, H. Nishimoto, H. Hosoe, K. Shimizu Thoracolumbar kyphosing scoliosis associated with spondyloepiphyseal dysplasia congenita: a case report Spine J 5 2005 217 220
30. G.R. Mortier, M. Weis, L. Nuytinck, L.M. King, D.J. Wilkin, A. De Paepe, R.S. Lachman, D.L. Rimoin, D.R. Eyre, D.H. Cohn Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder J Med Genet 37 2000 263 271
31. K. Nakamura, K. Miyoshi, N. Haga, T. Kurokawa Risk factors of myelopathy at the atlantoaxial level in spondyloepiphyseal dysplasia congenita Arch Orthop Trauma Surg 117 1998 468 470
32. G. Nishimura, N. Haga, H. Kitoh, Y. Tanaka, T. Sonoda, M. Kitamura, S. Shirahama, T. Itoh, E. Nakashima, H. Ohashi, S. Ikegawa The phenotypic spectrum of COL2A1 mutations Hum Mutat 26 2005 36 43
33. G. Redl Massive pyramidal tract signs after endotracheal intubation: a case report of spondyloepiphyseal dysplasia congenita Anesthesiology 89 1998 1262 1264
34. P. Ritvaniemi, B.P. Sokolov, C.J. Williams, E. Considine, L. Yurgenev, E.M. Meerson, L. Ala-Kokko, D.J. Prockop A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia Hum Mutat 3 1994 261 267
35. M. Saegusa, K. Nakamura, T. Matsushita, K. Inokuchi, H. Oda Intra-articular fracture of the knee with spondyloepiphyseal dysplasia congenita: successful result of open reduction and internal fixation Arch Orthop Trauma Surg 122 2002 241 244
36. G.S. Sellick, K.P. Hoornaert, G.R. Mortier, C. King, C.L. Dolling, R.A. Newbury-Ecob, M. Gargan, C.M. Hall, R.S. Houlston, S.F. Smithson A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene Clin Dysmorphol 15 2006 197 202
37. D. Sobetzko, G. Eich, M. Kalff-Susake, K.H. Grzeschik, A. Superti-Furga Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: now a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual Am J Med Genet 90 2000 239 242
38. J. Spranger, L.O. Langer Spondyloepiphyseal dysplasia Birth Defects Orig Artic Ser 10 1974 19 61
39. J.W. Spranger, L.O. Langer Jr Spondyloepiphyseal dysplasia congenita Radiology 94 1970 313 322
40. C.M. Strom, W.B. Upholt Isolation and characterization of genomic clones corresponding to the human type II procollagen gene Nucleic Acids Res 12 1984 1025 1038
41. J. Sulko, M. Czarny-Ratajczak, A. Wozniak, A. Latos-Bielenska, K. Kozlowski Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita Am J Med Genet A 137A 2005 292 297
42. O. Svensson, S. Aaro Cervical instability in skeletal dysplasia: report of 6 surgically fused cases Acta Orthop Scand 59 1988 66 70
43. G.E. Tiller, D.L. Rimoin, L.W. Murray, D.H. Cohn Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia Proc Natl Acad Sci U S A 87 1990 3889 3893
44. G.E. Tiller, M.A. Weis, P.A. Polumbo, H.E. Gruber, D.L. Rimoin, D.H. Cohn, D.R. Eyre An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita Am J Hum Genet 56 1995 388 395
45. M. Vikkula, A. Palotie, P. Ritvaniemi, J. Ott, L. Ala-Kokko, U. Sievers, K. Aho, L. Peltonen Early-onset osteoarthritis linked to the type II procollagen gene. Detailed clinical phenotype and further analysis of the gene Arthritis Rheum 36 1993 401 409
46. C.J. Williams, E.L. Considine, R.G. Knowlton, A. Reginato, G. Neumann, D. Harrison, P. Buxton, S. Jimenez, D.J. Prockop Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-Cys mutation in the procollagen type II gene (COL2A1) Human Genet 92 1993 499 505
47. R.B. Winter, B.A. Bloom Spine deformity in spondyloepimetaphyseal dysplasia J Pediatr Orthop 10 1990 535 539
48. A. Winterpacht, M. Hilbert, U. Schwarze, S. Mundlos, J. Spranger, B. Zabel Autosomal dominant spondyloarthropathy due to a type II procollagen gene (COL2A1) point mutation Hum Mutat 4 1994 257 262
49. A. Winterpacht, K. Hilbert, U. Schwarze, B. Zabel Non-radioactive multiplex-SSCP analysis: detection of a new type II procollagen gene (COL2A1) mutation Hum Genet 95 1995 437 439
50. R. Wynne-Davies, C. Hall Two clinical variants of spondylo-epiphysial dysplasia congenita J Bone Joint Surg Br 64 1982 435 441
51. R. Wynne-Davies, C. Hall, B.M. Ansell Spondylo-epiphysial dysplasia tarda with progressive arthropathy: a "new" disorder of autosomal recessive inheritance J Bone Joint Surg Br 64 1982 442 445
52. X. Xia, Y. Cui, Y. Huang, L. Pan, Y. Wu, P. Zhang, B. Jin A first familial G504S mutation of COL2A1 gene results in distinctive spondyloepiphyseal dysplasia congenita Clin Chim Acta 382 2007 148 150