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Volumn 72, Issue 3, 2005, Pages 275-277

Anomalies of vertebrae and ribs: Jarcho Levin syndrome. Description of a case and literature review

Author keywords

Jarcho Levin syndrome; Newborn; Rib anomalies; Vertebral anomalies

Indexed keywords

BONE EXAMINATION; BONE RADIOGRAPHY; CASE REPORT; FEMALE; FOLLOW UP; HUMAN; JARCHO LEVIN SYNDROME; LABORATORY TEST; NECK; NEWBORN; PREMATURITY; RESPIRATORY TRACT DISEASE; REVIEW; RIB; TRUNK; VERTEBRA; VERTEBRA BODY;

EID: 17844367590     PISSN: 1297319X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jbspin.2004.06.007     Document Type: Article
Times cited : (27)

References (12)
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    • (1991) Am. J. Med. Genet. , vol.40 , pp. 264-270
    • Karmes, P.S.1    Day, D.2    Berry, S.A.3    Pierpont, M.E.4
  • 2
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    • Multiple Vertebral Segmentation Defects: Analysis of 26 new patients and review of the literature
    • G.R. Mortier, R.S. Lachman, M. Bocian, and D.L. Rimoin Multiple Vertebral Segmentation Defects: analysis of 26 new patients and review of the literature Am. J. Med. Genet. 61 1996 310 319
    • (1996) Am. J. Med. Genet. , vol.61 , pp. 310-319
    • Mortier, G.R.1    Lachman, R.S.2    Bocian, M.3    Rimoin, D.L.4
  • 5
    • 0032768973 scopus 로고    scopus 로고
    • Segmental costovertebral malformations: Association with neural tube defects
    • S. Duru, S. Ceylan, B.H. Guvenc, and S. Ceylan Segmental costovertebral malformations: association with neural tube defects Pediatr. Neurosurg. 30 1999 272 277
    • (1999) Pediatr. Neurosurg. , vol.30 , pp. 272-277
    • Duru, S.1    Ceylan, S.2    Guvenc, B.H.3    Ceylan, S.4
  • 6
    • 0034988756 scopus 로고    scopus 로고
    • Detection of Jarcho-Levin syndrome at 12 weeks gestation by nuchal translucency screening and three-dimensional ultrasound
    • A.D. Hull, G. James, and D.H. Pretorius Detection of Jarcho-Levin syndrome at 12 weeks gestation by nuchal translucency screening and three-dimensional ultrasound Prenat. Diagn. 21 2001 390 394
    • (2001) Prenat. Diagn. , vol.21 , pp. 390-394
    • Hull, A.D.1    James, G.2    Pretorius, D.H.3
  • 9
    • 0037562916 scopus 로고    scopus 로고
    • 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
    • P.D. Turnpenny, N. Whittock, J. Duncan, S. Dunwoodie, K. Kusumi, and S. Ellard 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 2003 333 339
    • (2003) J. Med. Genet. , vol.40 , pp. 333-339
    • Turnpenny, P.D.1    Whittock, N.2    Duncan, J.3    Dunwoodie, S.4    Kusumi, K.5    Ellard, S.6
  • 10
    • 0042322955 scopus 로고    scopus 로고
    • Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: Report of two Caucasian siblings and literature review
    • S.I. Bannykh, S.C. Emery, J.K. Gerber, K.L. Jones, K. Benirschke, and E. Masliah Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review Am. J. Med. Genet. 120A 2003 241 246
    • (2003) Am. J. Med. Genet. , vol.120 , pp. 241-246
    • Bannykh, S.I.1    Emery, S.C.2    Gerber, J.K.3    Jones, K.L.4    Benirschke, K.5    Masliah, E.6
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    • Growth of the thoracic spine in congenital scoliosis after expansion thoracoplasty
    • R.M. Campbell Jr., and A.K. Hell-Vocke Growth of the thoracic spine in congenital scoliosis after expansion thoracoplasty J. Bone Joint Surg. Am. 85 2003 409 420 A
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    • Campbell Jr., R.M.1    Hell-Vocke, A.K.2
  • 12
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    • Case report: A prenatal case of Jarcho-Levin syndrome diagnosed during the first trimester of pregnancy
    • E. Kauffmann, H. Roman, G. Barau, H. Dumas, A. Laffitte, and A. Fourmdintraux Case report: a prenatal case of Jarcho-Levin syndrome diagnosed during the first trimester of pregnancy Prenat. Diagn. 23 2003 163 165
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    • Kauffmann, E.1    Roman, H.2    Barau, G.3    Dumas, H.4    Laffitte, A.5    Fourmdintraux, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.