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Volumn 16, Issue 6, 2007, Pages 443-445

Cervical spine stenosis in chondrodysplasia punctata

Author keywords

Brachytelephalangic; Cervical spine stenosis; Chondrodysplasia punctata

Indexed keywords

ARTICLE; CASE REPORT; CERVICAL SPINE; CHONDRODYSPLASIA PUNCTATA; FIBULA GRAFT; FOLLOW UP; GENETIC VARIABILITY; HUMAN; IMMOBILIZATION; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOTOMY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PYRAMIDAL SIGN; RECESSIVE INHERITANCE; SPINE SURGERY; VERTEBRA; VERTEBRAL CANAL STENOSIS; WALKING DIFFICULTY;

EID: 34848847853     PISSN: 1060152X     EISSN: 14735865     Source Type: Journal    
DOI: 10.1097/BPB.0b013e3282f05675     Document Type: Article
Times cited : (19)

References (17)
  • 1
    • 0033037717 scopus 로고    scopus 로고
    • Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata
    • Derry JM, Gormally E, Means GD, Zhao W, Meindl A, Kelley RI. Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. Nat Genet 1999; 22:286-290.
    • (1999) Nat Genet , vol.22 , pp. 286-290
    • Derry, J.M.1    Gormally, E.2    Means, G.D.3    Zhao, W.4    Meindl, A.5    Kelley, R.I.6
  • 2
    • 0034353186 scopus 로고    scopus 로고
    • Cholesterol metabolism defect associated with Conradi-Hunerman-Happle syndrome
    • DiPreta EA, Smith KJ, Skelton H. Cholesterol metabolism defect associated with Conradi-Hunerman-Happle syndrome. Int J Dermatol 2000; 39: 846-850.
    • (2000) Int J Dermatol , vol.39 , pp. 846-850
    • DiPreta, E.A.1    Smith, K.J.2    Skelton, H.3
  • 3
    • 0034002775 scopus 로고    scopus 로고
    • Cholesterol synthesis and skeletal formation
    • Gibson KM. Cholesterol synthesis and skeletal formation. Pediatr Res 2000; 47:289.
    • (2000) Pediatr Res , vol.47 , pp. 289
    • Gibson, K.M.1
  • 4
    • 0034564537 scopus 로고    scopus 로고
    • Inborn errors of cholesterol biosynthesis
    • Kelley RI. Inborn errors of cholesterol biosynthesis. Adv Pediatr 2000; 47: 1-53.
    • (2000) Adv Pediatr , vol.47 , pp. 1-53
    • Kelley, R.I.1
  • 5
    • 0033624130 scopus 로고    scopus 로고
    • The Conradi-Hunermann-Happle syndrome is caused by mutations in the gene that encodes a 8-7 sterol isomerase and is biochemically related to the CHILD syndrome
    • Traupe H, Has C. The Conradi-Hunermann-Happle syndrome is caused by mutations in the gene that encodes a 8-7 sterol isomerase and is biochemically related to the CHILD syndrome. Eur J Dermatol 2000; 10:425-428.
    • (2000) Eur J Dermatol , vol.10 , pp. 425-428
    • Traupe, H.1    Has, C.2
  • 6
    • 0031903775 scopus 로고    scopus 로고
    • Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: Mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata
    • Wanders RJ, Romeijn GJ. Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata. J Inherit Metab Dis 1998; 21:309-312.
    • (1998) J Inherit Metab Dis , vol.21 , pp. 309-312
    • Wanders, R.J.1    Romeijn, G.J.2
  • 8
    • 0014243452 scopus 로고
    • Conradi's disease: Chondrodystrophia calcificans congenita, congenital stippled epiphyses
    • Comings DE, Papazian C, Schoene HR. Conradi's disease: chondrodystrophia calcificans congenita, congenital stippled epiphyses. J Pediatr 1968; 72:63-69.
    • (1968) J Pediatr , vol.72 , pp. 63-69
    • Comings, D.E.1    Papazian, C.2    Schoene, H.R.3
  • 9
    • 0025128065 scopus 로고
    • Cervicothoracic myelopathy in Conradi-Hunermann disease: MRI diagnosis
    • Goodman P, Dominguez R. Cervicothoracic myelopathy in Conradi-Hunermann disease: MRI diagnosis. Magn Reson Imaging 1990; 8: 647-650.
    • (1990) Magn Reson Imaging , vol.8 , pp. 647-650
    • Goodman, P.1    Dominguez, R.2
  • 10
    • 0018140448 scopus 로고
    • Heritable disorders in orthopedics
    • Wynne-Davies R. Heritable disorders in orthopedics. Orthop Clin North Am 1978; 9:3-9.
    • (1978) Orthop Clin North Am , vol.9 , pp. 3-9
    • Wynne-Davies, R.1
  • 11
    • 0016769589 scopus 로고
    • A review of genetics in orthopaedics
    • Wynne-Davies R. A review of genetics in orthopaedics. Acta Orthop Scand 1975; 46:338-349.
    • (1975) Acta Orthop Scand , vol.46 , pp. 338-349
    • Wynne-Davies, R.1
  • 12
    • 0024337534 scopus 로고
    • Brachytelephalangic chondrodysplasia punctata: A possible X-linked recessive form
    • Maroteaux P. Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form. Hum Genet 1989; 82:167-170.
    • (1989) Hum Genet , vol.82 , pp. 167-170
    • Maroteaux, P.1
  • 16
    • 0036943850 scopus 로고    scopus 로고
    • Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: Report of two cases
    • Herman TE, Lee BC, McAlister WH. Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases. Pediatr Radiol 2002; 6:452-456.
    • (2002) Pediatr Radiol , vol.6 , pp. 452-456
    • Herman, T.E.1    Lee, B.C.2    McAlister, W.H.3
  • 17
    • 0041317017 scopus 로고    scopus 로고
    • Cervical spine stenosis and possible vitamin K deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification system
    • Eash DD, Weaver DD, Brunetti-Pierri N. Cervical spine stenosis and possible vitamin K deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification system. Am J Med Genet A 2003; 122:70-75.
    • (2003) Am J Med Genet A , vol.122 , pp. 70-75
    • Eash, D.D.1    Weaver, D.D.2    Brunetti-Pierri, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.