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Volumn 9, Issue 3, 2000, Pages 205-208

Tibial aplasia - VACTERL association, a new syndrome?

Author keywords

Skeletal dysplasia; Tibial aplasia; VACTERL

Indexed keywords

APLASIA; ARTICLE; BONE DYSPLASIA; CASE REPORT; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DISEASE ASSOCIATION; HUMAN; HYPOSPADIAS; INFANT; MALE; MALFORMATION SYNDROME; PRIORITY JOURNAL; SYNDROME; TRACHEOESOPHAGEAL FISTULA; VERTEBRA MALFORMATION;

EID: 0033945046     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200009030-00010     Document Type: Article
Times cited : (10)

References (14)
  • 1
    • 0027321268 scopus 로고
    • A family study on isolated congenital radial and tibial deficiencies in hungary, 1975-1984
    • Czeizel AE, Vitez M, Kodaj I, Lenz W (1993). A family study on isolated congenital radial and tibial deficiencies in Hungary, 1975-1984. Clin Genet 44:32-36.
    • (1993) Clin Genet , vol.44 , pp. 32-36
    • Czeizel, A.E.1    Vitez, M.2    Kodaj, I.3    Lenz, W.4
  • 2
    • 0028153548 scopus 로고
    • Congenital abnormalities associated with limb deficiencies: A population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984)
    • Evans JA, Vitez M, Cziezel A (1994). Congenital abnormalities associated with limb deficiencies: A population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984). Am J Med Genet 4:52-66.
    • (1994) Am J Med Genet , vol.4 , pp. 52-66
    • Evans, J.A.1    Vitez, M.2    Cziezel, A.3
  • 4
    • 0018906465 scopus 로고
    • Colobomata of the iris, ciliary body and choroid in an infant with oesophago-tracheal fistula and congenital heart defects. An unknown malformation complex
    • Lillquist K, Warburg M, Andersen SR, Hagerstrand I (1980). Colobomata of the iris, ciliary body and choroid in an infant with oesophago-tracheal fistula and congenital heart defects. An unknown malformation complex. Acta Paediatr Scand 69:427-430
    • (1980) Acta Paediatr Scand , vol.69 , pp. 427-430
    • Lillquist, K.1    Warburg, M.2    Andersen, S.R.3    Hagerstrand, I.4
  • 6
    • 0030734018 scopus 로고    scopus 로고
    • Severe limb deficiencies, vertebral hypersegmentation, and mirror polydactyly: Two additional cases that expand the phenotype to a more generalised effect on blastogenisis
    • Martínez-Fraís ML, Arroyo I, Bermejo E, Espinosa J, García MJ (1997). Severe limb deficiencies, vertebral hypersegmentation, and mirror polydactyly: two additional cases that expand the phenotype to a more generalised effect on blastogenisis. Am J Med Genet 73:205-209
    • (1997) Am J Med Genet , vol.73 , pp. 205-209
    • Martínez-Fraís, M.L.1    Arroyo, I.2    Bermejo, E.3    Espinosa, J.4    García, M.J.5
  • 7
    • 0021331410 scopus 로고
    • Isolated tibial hemimelia in sibs: An autosomal-recessive disorder?
    • McKay M, Clarren SC, Zorn R (1984). Isolated tibial hemimelia in sibs: an autosomal-recessive disorder? Am J Med Genet 17:603-607.
    • (1984) Am J Med Genet , vol.17 , pp. 603-607
    • McKay, M.1    Clarren, S.C.2    Zorn, R.3
  • 9
    • 0033522796 scopus 로고    scopus 로고
    • Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities
    • Raas-Rothschild A, Nir A, Ergaz Z, Bar Ziv J, Rein AJJT (1999). Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities. Am J Med Genet 84:361-364.
    • (1999) Am J Med Genet , vol.84 , pp. 361-364
    • Raas-Rothschild, A.1    Nir, A.2    Ergaz, Z.3    Bar Ziv, J.4    Rein, A.J.J.T.5
  • 10
    • 0023472544 scopus 로고
    • Brief clinical report: Tibial hemimelia-cleft lip/palate in a Brazilian child born to consanguineous parents
    • Richieri-Costa A (1987). Brief clinical report: Tibial hemimelia-cleft lip/palate in a Brazilian child born to consanguineous parents. Am J Med Genet 28:325-329.
    • (1987) Am J Med Genet , vol.28 , pp. 325-329
    • Richieri-Costa, A.1
  • 11
    • 0023230513 scopus 로고
    • Tibial hemimelia: Report on 37 new cases, clinical and genetic considerations
    • Richieri-Costa A, Ferrareto I, Masiero D, Da Silva CRM (1987). Tibial hemimelia: Report on 37 new cases, clinical and genetic considerations. Am J Med Genet 27:867-884.
    • (1987) Am J Med Genet , vol.27 , pp. 867-884
    • Richieri-Costa, A.1    Ferrareto, I.2    Masiero, D.3    Da Silva, C.R.M.4
  • 12
    • 0025342799 scopus 로고
    • Autosomal dominant tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome: Report of a Brazilian family
    • Richieri-Costa A, De Miranda E, Kamiya TY, Freire-Maria DV (1990). Autosomal dominant tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome: report of a Brazilian family. Am J Med Genet 36:1 -6.
    • (1990) Am J Med Genet , vol.36 , pp. 1-6
    • Richieri-Costa, A.1    De Miranda, E.2    Kamiya, T.Y.3    Freire-Maria, D.V.4
  • 13
    • 0025748036 scopus 로고
    • Sporadic, idiopathic MCA syndrome with mandibulofacial dysostosis and tibial hemimelia
    • Richieri-Costa A, Guion-Almeida ML, Van den Ende J (1991). Sporadic, idiopathic MCA syndrome with mandibulofacial dysostosis and tibial hemimelia. Am J Med Genet 41:330-332.
    • (1991) Am J Med Genet , vol.41 , pp. 330-332
    • Richieri-Costa, A.1    Guion-Almeida, M.L.2    Van Den Ende, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.