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Volumn 86, Issue 3, 1999, Pages 278-281

Oral-facial-digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect

Author keywords

Endocardial cushion defect; Lobulated tongue; Oral facial digital syndrome; Polydactyly; Y shaped metacarpal

Indexed keywords

ARTICLE; CASE REPORT; CLEFT LIP; CLEFT PALATE; CONGENITAL HEART DISEASE; DYSOSTOSIS; ENDOCARDIAL CUSHION DEFECT; HEARING IMPAIRMENT; HUMAN; INFANT; MALE; METACARPAL BONE; POLYDACTYLY; PRIORITY JOURNAL;

EID: 0032828792     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990917)86:3<278::AID-AJMG16>3.0.CO;2-C     Document Type: Article
Times cited : (23)

References (15)
  • 1
    • 0027960418 scopus 로고
    • Oral-facial-digital syndrome: Report on a transitional type between the Mohr and Varadi syndrome in a fetus
    • Camera G, Marasini M, Pozzolo S, Camera A. 1994. Oral-facial-digital syndrome: report on a transitional type between the Mohr and Varadi syndrome in a fetus. Am J Med Genet 53:196-198.
    • (1994) Am J Med Genet , vol.53 , pp. 196-198
    • Camera, G.1    Marasini, M.2    Pozzolo, S.3    Camera, A.4
  • 3
    • 0015187961 scopus 로고
    • Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome)
    • Gustavson KH, Kreuger A, Petersson PO. 1971. Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome). Clin Genet 2:261-266.
    • (1971) Clin Genet , vol.2 , pp. 261-266
    • Gustavson, K.H.1    Kreuger, A.2    Petersson, P.O.3
  • 4
    • 0026009297 scopus 로고
    • Twin fetuses with abnormalities that overlap with three midline malformation complexes
    • Hingorani SR, Pagon RA, Shepard TH, Kapus RP. 1991. Twin fetuses with abnormalities that overlap with three midline malformation complexes. Am J Med Genet 41:230-235.
    • (1991) Am J Med Genet , vol.41 , pp. 230-235
    • Hingorani, S.R.1    Pagon, R.A.2    Shepard, T.H.3    Kapus, R.P.4
  • 5
    • 0029912957 scopus 로고    scopus 로고
    • Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: Compound heterozygosity Jeune-Mohr and Jeune-Ivemark?
    • Majewski F, Ozturk B, Gillessen-Kaesbach G. 1996. Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: compound heterozygosity Jeune-Mohr and Jeune-Ivemark? Am J Med Genet 63:74-79.
    • (1996) Am J Med Genet , vol.63 , pp. 74-79
    • Majewski, F.1    Ozturk, B.2    Gillessen-Kaesbach, G.3
  • 6
    • 0029873239 scopus 로고    scopus 로고
    • Orocardiodigital syndrome: An oral-facial-digital type II variant associated with atrioventricular canal
    • Maria CD, Bruno M, Aldo G, Bruno D. 1996. Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal. J Med Genet 33:416-418.
    • (1996) J Med Genet , vol.33 , pp. 416-418
    • Maria, C.D.1    Bruno, M.2    Aldo, G.3    Bruno, D.4
  • 8
    • 0025208291 scopus 로고
    • Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies
    • Meinecke P, Hayek H. 1990. Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies. J Med Genet 27:200-202.
    • (1990) J Med Genet , vol.27 , pp. 200-202
    • Meinecke, P.1    Hayek, H.2
  • 9
    • 0344960732 scopus 로고
    • Oro-facio-digital syndrome, Mohr type
    • Buyse ML, editor. Cambridge: Blackwell
    • Michels W. 1990. Oro-facio-digital syndrome, Mohr type. In: Buyse ML, editor. Birth defects encyclopedia. Cambridge: Blackwell. p 1311-1313.
    • (1990) Birth Defects Encyclopedia , pp. 1311-1313
    • Michels, W.1
  • 11
    • 0025786027 scopus 로고
    • On lumping and splitting: A fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome
    • Muenke M, Ruchelli ED, Rorke LB, McDonald-McGinn DM, Orlow MK, Isaacs A, Craparo FJ, Dunn LK, Zackai EH. 1991. On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome. Am J Med Genet 41:548-556.
    • (1991) Am J Med Genet , vol.41 , pp. 548-556
    • Muenke, M.1    Ruchelli, E.D.2    Rorke, L.B.3    McDonald-McGinn, D.M.4    Orlow, M.K.5    Isaacs, A.6    Craparo, F.J.7    Dunn, L.K.8    Zackai, E.H.9
  • 12
    • 38849209662 scopus 로고
    • Une malformation hereditaire de la maqueuse buccale: Brides et fret anormaux
    • Papillon L, Psaume J. 1954. Une malformation hereditaire de la maqueuse buccale: brides et fret anormaux. Rev Stomatol 55:209-227.
    • (1954) Rev Stomatol , vol.55 , pp. 209-227
    • Papillon, L.1    Psaume, J.2
  • 13
    • 0023214678 scopus 로고
    • Oro-facial-digital syndrome II: Transitional type between the Mohr and the Majewski syndromes: Report of two new cases
    • Silengo MC, Bell GL, Biagioli M, Franceschini P. 1987. Oro-facial-digital syndrome II: transitional type between the Mohr and the Majewski syndromes: report of two new cases. Clin Genet 31:331-336.
    • (1987) Clin Genet , vol.31 , pp. 331-336
    • Silengo, M.C.1    Bell, G.L.2    Biagioli, M.3    Franceschini, P.4
  • 14
    • 0028071727 scopus 로고
    • Oral-facial-digital syndrome II: Transitional type between Mohr and Majewski syndrome: Report of a new case with congenital stenosis of the trachea
    • Steichen-Gersdorf E, Gassner I, Covi B, Fischer H. 1994. Oral-facial-digital syndrome II: transitional type between Mohr and Majewski syndrome: report of a new case with congenital stenosis of the trachea. Clin Dysmorphol 3:245-250.
    • (1994) Clin Dysmorphol , vol.3 , pp. 245-250
    • Steichen-Gersdorf, E.1    Gassner, I.2    Covi, B.3    Fischer, H.4
  • 15
    • 0027522655 scopus 로고
    • Review: Oral-facial-digital syndrome, 1992
    • Toriello HV. 1993. Review: oral-facial-digital syndrome, 1992. Clin Dysmorphol 2:95-105.
    • (1993) Clin Dysmorphol , vol.2 , pp. 95-105
    • Toriello, H.V.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.