Hereditary multiple exostoses with spine involvement in a 4-year-old boy

American Journal of Medical Genetics, Part A

Volumn 152, Issue 5, 2010, Pages 1264-1267

  Ezra, Navid ^a   Tetteh, Beatrice ^b   Diament, Michael ^b   Jonas, Adam J ^b   Dickson, Patricia ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b HARBOR UCLA MEDICAL CENTER   (United States)

Author keywords

Genetics; Hereditary multiple exostosis; Osteochondroma; Spinal cord compression

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CERVICAL MYELOPATHY; CHILD; FAMILY HISTORY; FRAMESHIFT MUTATION; GENE DUPLICATION; GENE SEQUENCE; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; LAMINECTOMY; LEG PAIN; MALE; NECK PAIN; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SPINAL CORD COMPRESSION; URINE INCONTINENCE; WALKING DIFFICULTY;

CHILD, PRESCHOOL; EXOSTOSES, MULTIPLE HEREDITARY; FEMALE; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; PREGNANCY; SPINE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 77951702575     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33345     Document Type: Article

References (33)

1. Aldea S, Bonneville F, Poirier J, Chiras J, George B, Carpentier A. 2006. Acute spinal cord compression in hereditary multiple exostoses. Acta Neurochir (Wien) 148:195-198. (Pubitemid 43139152)
2. Atabay H, Kuyucu Y, Korkmaz O, Iplikcioglu AC. 1996. Myelopathy due to hereditary multiple exostoses: CT and MR studies. Clin Neurol Neurosurg 98:186-188. (Pubitemid 26245463)
3. Bernard MA, Hogue DA, ColeWG, Sanford T, Snuggs MB, Montufar-Solis D, Duke PJ, Carson DD, Scott A, Van Winkle WB, Hecht JT. 2000. Cytoskeletal abnormalities in chondrocytes with EXT1 and EXT2 mutations. J Bone Miner Res 15:442-450. (Pubitemid 30134088)
4. Bernard MA, Hall CE, Hogue DA, Cole WG, Scott A, Snuggs MB, Clines GA, Ludecke HJ, Lovett M, Van Winkle WB, Hecht JT. 2001. Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. Cell Motil Cytoskeleton 48:149-162. (Pubitemid 32116361)
5. Cirak B, Karabulut N, Palaoglu S. 2002. Cervical osteochondroma as a cause of spinal cord compression in a patient with hereditary multiple exostoses: Computed tomography and magnetic resonance imaging findings. Australas Radiol 46:309-311. (Pubitemid 35013789)
6. Eder HG, Oberbauer RW, Ranner G. 1993. Cervical cord compression in hereditary multiple exostoses. J Neurosurg Sci 37:53-56. (Pubitemid 23200370)
7. Giudicissi-Filho M, de Holanda CV, Borba LA, Rassi-Neto A, Ribeiro CA, de Oliveira JG. 2006. Cervical spinal cord compression due to an osteochondroma in hereditary multiple exostosis: Case report and review of the literature. Surg Neurol 66:S7-S11. (Pubitemid 44647415)
8. Hecht JT, Hogue D, Strong LC, Hansen MF, Blanton SH, Wagner M. 1995. Hereditary multiple exostosis and chondrosarcoma: Linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8. Am J Hum Genet 56:1125-1131.
9. Jennes I, Pedrini E, Zuntini M, Mordenti M, Balkassmi S, Asteggiano CG, Casey B, Bakker B, Sangiorgi L, Wuyts W. 2009. Multiple osteochondromas: Mutation update and description of the multiple osteochondromas mutation database (MOdb). Hum Mutat 30:1620-1627.
10. Krooth RS, Macklin MT, Hilbish TF. 1961. Diaphysial aclasis (multiple exostoses) on Guam. Am J Hum Genet 13:340-347.
11. Labram EK, Mohan J. 1996. Diaphyseal aclasis with spinal cord compression. Report of two cases and review of the literature. J Neurosurg 84:518-521. (Pubitemid 26062880)
12. Le Merrer M, Legeai-Mallet L, Jeannin PM, Horsthemke B, Schinzel A, Plauchu H, Toutain A, Achard F, Munnich A, Maroteaux P. 1994. A gene for hereditary multiple exostoses maps to chromosome 19p. Hum Mol Genet 3:717-722. (Pubitemid 24148614)
13. Legeai-Mallet L, Munnich A, Maroteaux P, Le Merrer M. 1997. Incomplete penetrance and expressivity skewing in hereditary multiple exostoses. Clin Genet 52:12-16. (Pubitemid 27326294)
14. Madigan R, Worrall T, McClain EJ. 1974. Cervical cord compression in hereditary multiple exostosis. Review of the literature and report of a case. J Bone Joint Surg Am 56:401-404.
15. Oga M, Nakatani F, Ikuta K, Tamaru T, Arima J, Tomishige M. 2000. Treatment of cervical cord compression, caused by hereditary multiple exostosis, with laminoplasty: A case report. Spine 25:1290-1292. (Pubitemid 30322323)
16. Pannier S, Legeai-Mallet L. 2008. Hereditary multiple exostoses and enchondromatosis. Best Pract Res Clin Rheumatol 22:45-54.
17. Quirini GE, Meyer JR, Herman M, Russell EJ. 1996. Osteochondroma of the thoracic spine: An unusual cause of spinal cord compression. AJNR Am J Neuroradiol 17:961-964. (Pubitemid 26150151)
18. Raskind WH, Conrad EU, Chansky H, Matsushita M. 1995. Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11. Am J Hum Genet 56:1132-1139.
19. Raskind WH, Conrad EU, III, Matsushita M, Wijsman EM, Wells DE, Chapman N, Sandell LJ, Wagner M, Houck J. 1998. Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. Hum Mutat 11:231-239. (Pubitemid 28132880)
20. Roach JW, Klatt JW, Faulkner ND. 2009. Involvement of the spine in patients with multiple hereditary exostoses. J Bone Joint Surg Am 91:1942-1948.
21. Rose EF, Fekete A. 1964. Odontoid osteochondroma causing suden death. Report of a case and review of the literature. AmJ Clin Pathol 42:606-609.
22. Sandell LJ. 2009. Multiple hereditary exostosis, EXT genes, and skeletal development. J Bone Joint Surg Am 91:58-62.
23. Schmale GA, Conrad EU, III, Raskind WH. 1994. The natural history of hereditary multiple exostoses. J Bone Joint Surg Am 76:986-992. (Pubitemid 24258415)
24. Singh DS, Rao SS, Sharma S, Srivastava KK, Yadav SS. 1980. Cervical cord compression from multiple hereditary exostoses. J Assoc Physicians India 28:535-537.
25. Solomon L. 1964. Hereditary multiple exostosis Am J Hum Genet 16:351-363.
26. Stickens D, Clines G, Burbee D, Ramos P, Thomas S, Hogue D, Hecht JT, Lovett M, Evans GA. 1996. The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Nat Genet 14:25-32.
27. Stieber JR, Dormans JP. 2005. Manifestations of hereditary multiple exostoses. J Am Acad Orthop Surg 13:110-120.
28. Trebicz-Geffen M, Robinson D, Evron Z, Glaser T, Fridkin M, Kollander Y, Vlodavsky I, Ilan N, Law KF, Cheah KS, Chan D, Werner H, Nevo Z. 2008. The molecular and cellular basis of exostosis formation in hereditary multiple exostoses. Int J Exp Pathol 89:321-331.
29. van den Berg H, Kroon HM, Slaar A, Hogendoorn P. 2008. Incidence of biopsy-proven bone tumors in children: A report based on the Dutch pathology registration "PALGA". J Pediatr Orthop 28:29-35.
30. Vinstein AL, Franken EA, Jr. 1971. Hereditary multiple exostoses. Report of a case with spinal cord compression. Am J Roentgenol Radium Ther Nucl Med 112:405-407.
31. Wen DY, Bergman TA, Haines SJ. 1989. Acute cervical myelopathy from hereditary multiple exostoses: Case report. Neurosurgery 25: 472-475.
32. Wuyts W, Van Hul W. 2000. Molecular basis of multiple exostoses: Mutations in the EXT1 and EXT2 genes. Hum Mutat 15:220-227.
33. Zak BM, Crawford BE, Esko JD. 2002. Hereditary multiple exostoses and heparan sulfate polymerization. Biochim Biophys Acta 1573: 346-355.