Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae

American Journal of Medical Genetics, Part A

Volumn 152, Issue 6, 2010, Pages 1357-1371

  Offiah, Amaka ^a,j   Alman, Benjamin ^b   Cornier, Alberto S ^c,d   Giampietro, Philip F ^e   Tassy, Olivier ^f   Wade, Angie ^g   Turnpenny, Peter D ^h,i  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c La Concepción Hospital   (Puerto Rico)

^d PONCE SCHOOL OF MEDICINE   (Puerto Rico)

^e UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^f STOWERS INSTITUTE FOR MEDICAL RESEARCH   (United States)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

ⁱ UNIVERSITY OF EXETER   (United Kingdom)

^j SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

more..

Author keywords

Classification; Jarcho levin syndrome; Klippel Feil anomaly; Segmentation defects of the vertebrae; Spondylocostal dysostosis; Spondylothoracic dysostosis

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLASSIFICATION ALGORITHM; DISEASE CLASSIFICATION; HUMAN; INTERRATER RELIABILITY; LUMBOSACRAL SPINE; PILOT STUDY; PRIORITY JOURNAL; SCOLIOSIS; SPINE RADIOGRAPHY; SPONDYLOTHORACIC DYSOSTOSIS; THORACIC SPINE; VERTEBRA BODY; VERTEBRA MALFORMATION; VERTEBRA SEGMENTATION DEFECT;

FEMALE; HUMANS; KYPHOSIS; PILOT PROJECTS; SCOLIOSIS; SPINE;

EID: 77952749105     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33361     Document Type: Article

References (52)

1. Aburakawa K, Harada M, Otake S. 1996. Clinical evaluations of the treatment of congenital scoliosis. Orthop Surg Trauma 39:55-62.
2. Aymé S, Preus M. 1986. Spondylocostal/spondylothoracic dysostosis: The clinical basis for prognosticating and genetic counselling. Am J Med Genet 24:599-606. (Pubitemid 16056108)
3. Bannykh SI, Emery SC, Gerber J-K, Jones KL, Benirschke K, Masliah E. 2003. Aberrant Pax1 and Pax9 expression in Jarcho Levin syndrome: Report of 2 caucasian siblings and literature review. Am J Med Genet Part A 120A:241-246. (Pubitemid 37063804)
4. Bartsocas CS, Kiossoglou KA, Papas CV, Xanthou-Tsingoglou M, Anagnostakis DE, Daskalopoulou HD. 1974. Costovertebral dysplasia. Birth Defects OAS X:221-226.
5. Beighton P, Horan FT. 1981. Spondylocostal dysostosis in South African sisters. Clin Genet 19:23-25. (Pubitemid 11136670)
6. Bonafé L, Giunta C, Gassner M, Steinmann B, Superti-Furga A. 2003. A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village. Clin Genet 64:28-35. (Pubitemid 36949946)
7. Brand-Saberi B, Christ B. 2000. Evolution and development of distinct cell lineages derived from somites. Curr Top Dev Biol 48:1-42.
8. Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD. 2000. Mutations in the human Delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nature Genet 24:438-441. (Pubitemid 30187449)
9. Cantú JM, Urrusti J, Rosales G, Rojas A. 1971. Evidence for autosomal recessive inheritance of costovertebral dysplasia. Clin Genet 2:149-154.
10. Casamassima AC, Morton CC, Nance WE, Kodroff M, Caldwell R, Kelly T, Wolf B. 1981. Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship. Am J Med Genet 8:117-127.
11. Clarke RA, Catalan G, Diwan AD, Kearsley JH. 1998. Heterogeneity in Klippel-Feil syndrome: A new classification. Pediatr Radiol 28:967-974. (Pubitemid 28554621)
12. Cornier AS, Ramírez N, Carlo S, Reiss A. 2003. Controversies surrounding Jarcho-Levin syndrome. Curr Opin Pediatr 15:614-620.
13. Cornier AS, Ramírez N, Arroyo S, Acevedo J, García L, Carlo S, Korf B. 2004. Phenotype characterisation and natural history of spondylothoracic dysplasia syndrome: A series of 27 new cases. Am J Med Genet Part A 128A:120-126. (Pubitemid 39162931)
14. Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Ellard S, Young E, Carlo SE, Emans JB, Turnpenny PD, Pourquié O. 2008. Mutations in the MESP2 gene cause Spondylothoracic Dysostosis/Jarcho -Levin syndrome. Am J Hum Genet 82:1334-1341.
15. Daikha-Dahmane F, Huten Y, Morvan J, Szpiro-Tapia S, Nessmann C, Eydoux P. 1998. Fetus with Casamassima-Morton-Nance syndrome and an inherited (6;9) balanced translocation. Am J Med Genet 80:514-517. (Pubitemid 29002021)
16. David TJ, Glass A. 1983. Hereditary costovertebral dysplasia with malignant cerebral tumour. J Med Genet 20:441-444. (Pubitemid 14200416)
17. Dunwoodie SL, Clements M, Sparrow DB, Conlon R, Beddington RSP. 2002. Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm. Development 129:1795-1806. (Pubitemid 34874195)
18. Erol B, Tracy MR, Dormans JP, Zackai EH, Maisenbacher MK, O'Brien ML, Turnpenny PD, Kusimi K. 2004. Congenital scoliosis and vertebral malformations: Characterization of segmental defects for genetic analysis. J Pediatr Orthop 24:674-682. (Pubitemid 39425633)
19. Feil A. 1919. L'absence et la diminution des vertebres cervicales. Thesis, Libraire Litteraire et Medicale, Paris.
20. Fleiss JL. 1981. Statistical Methods for Rates and Proportions 2nd edition. New York: Wiley.
21. Hutchinson J. 1894. Deformity of shoulder girdle. British Med J 1:634.
22. Jarcho S, Levin PM. 1938. Hereditary malformation of the vertebral bodies. Bull Johns Hopkins Hosp 62:216-226.
23. Karnes PS, Day D, Berry SA, Pierpoint MEM. 1991. Jarcho-Levin syndrome: four new cases and classification of subtypes. Am J Med Genet 40:264-270.
24. Klippel M, Feil A. 1912. Un cas d'absence des vertebres cervicales. Nouv Icon Salpet 25:223.
25. Kozlowski K. 1984. Spondylo-costal dysplasia. Fortschr Röntgenstr 140:204-209.
26. Martínez-Frías ML, Urioste M. 1994. Segmentation anomalies of the vertebras and ribs: A developmental field defect: Epidemiologic evidence. Am J Med Genet 49:36-44. (Pubitemid 24011520)
27. McMaster MJ, Singh H. 1999. Natural history of congenital kyphosis and congenital kyphoscoliosis. A study of one hundred and twelve patients. J Bone Joint Surg Am 81:1367-1383. (Pubitemid 29489470)
28. Mortier GR, Lachman RS, Bocian M, Rimoin DL. 1996. Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature. Am J Med Genet 61:310-319. (Pubitemid 26043428)
29. Moseley JE, Bonforte RJ. 1969. Spondylothoracic dysplasia - A syndrome of congenital anomalies. Am J Roentgenol 106:166-169.
30. Offiah AC, Hall CM. 2003. Radiological diagnosis of the constitutional disorders of bone. As easy as A, B, C? Pediatr Radiol 33:153-161.
31. Ohashi H, Sugio Y, Kajii T. 1987. Spondylocostal dysostosis: Report of three patients. Jpn J Hum Genet 32:299-303.
32. Perez-Comas A, Garcia-Castro JM. 1974. Occipito-facial-cervicothoracic- abdomino- digital dysplasia: Jarcho Levin syndrome of vertebral anomalies. J Pediatr 85:388-391.
33. Pochaczevsky R, Ratner H, Perles D, Kassner G, Naysan P. 1971. Spondylothoracic dysplasia. Radiology 98:53-58.
34. Poor MA, Alberti O Jr, Griscom NT, Driscoll SG, Holmes LB. 1983. Nonskeletal malformations in one of three siblings with Jarcho-Levin syndrome of vertebral anomalies. J Pediatr 103:270-272.
35. Purkiss SB, Driscoll B, Cole WG, Alman B. 2002. Idiopathic scoliosis in families of children with congenital scoliosis. Clin Orthop Relat Res 401:27-31. (Pubitemid 34832833)
36. Rastogi D, Rosenzweing EB, Koumbourlis A. 2002. Pulmonary hypertension in Jarcho Levin syndrome. Am J Med Genet 107:250-252. (Pubitemid 34044900)
37. Rimoin DL, Fletcher BD, McKusick VA. 1968. Spondylocostal dysplasia. Am J Med Genet 45:948-953.
38. Roberts AP, Conner AN, Tolmie JL, Connor JM. 1988. Spondylothoracic and spondylocostal dysostosis. J Bone Joint Surg 70B:123-126.
39. Silengo MC, Cavallaro S, Francheschini P. 1978. Recessive spondylocostal dysostosis: Two new cases. Clin Genet 13:289-294. (Pubitemid 8319637)
40. Solomon L, Jimenez B, Reiner L. 1978. Spondylothoracic dysostosis. Arch Pathol Lab Med 102:201-205.
41. Sparrow DB, Chapman G, Wouters MA, Whittock NV, Ellard S, Fatkin D, Turnpenny PD, Kusumi K, Sillence D, Dunwoodie SL. 2006. Mutation of the LUNATICFRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. Am J Hum Genet 78:28-37. (Pubitemid 41833157)
42. Sparrow DB, Guillén-Navarro E, Fatkin D, Dunwoodie SL. 2008. Mutation of hairy-and-enhancer-of-split-7 in humans causes spondylocostal dysostosis. Hum Mol Genet 17:3761-3766.
43. Superti-Furga A, Unger S. 2007. Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet 143:1-18. (Pubitemid 46051466)
44. Takikawa K, Haga N, Maruyama T, Nakatomi A, Kondoh T, Makita Y, Hata A, Kawabata H, Ikegawa S. 2006. Spine and rib abnormalities and stature in spondylocostal dysostosis. Spine 31:E192-E197.
45. Temple IK, Thomas TG, Baraitser M. 1988. Congenital spinal deformity in a three generation family. J Med Genet 25:831-834.
46. Thomsen M, Schneider U, Weber M, Johannisson R, Niethard F. 1997. Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III. Spine 22:396-401. (Pubitemid 27093478)
47. Turnpenny PD, Thwaites RJ, Boulos FN. 1991. Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis. J Med Genet 28:27-33.
48. Turnpenny PD, Bulman MP, Frayling TM, Abu-Nasra TK, Garrett C, Hattersley AT, Ellard S. 1999. A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. Am J Hum Genet 65:175-182. (Pubitemid 30470462)
49. Turnpenny PD, Whittock NV, Duncan J, Dunwoodie S, Kusumi K, Ellard S. 2003. Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis. J Med Genet 40:333-339. (Pubitemid 36613469)
50. Turnpenny PD, Alman B, Cornier AS, Giampietro PF, Offiah A, Tassy O, Pourquié O, Kusumi K, Dunwoodie S. 2007. Abnormal vertebral segmentation and the Notch signaling pathway in man. Dev Dyn 236:1456-1474. (Pubitemid 46932351)
51. Whittock NV, Sparrow DB, Wouters MA, Sillence D, Ellard S, Dunwoodie SL, Turnpenny PD. 2004. Mutated MESP2 causes spondylocostal dysostosis in humans. Am J Hum Genet 74:1249-1254. (Pubitemid 38669323)
52. Wynne-Davies R. 1975. Congenital vertebral anomalies: Aetiology and relationship to spinabifida cystica. J Med Genet 12:280-288.