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Volumn 17, Issue 4, 2008, Pages 179-182

Oral-facial-digital syndrome with vaginal atresia, hydronephrosis and congenital cardiac defect

Author keywords

Cleft palate; Congenital heart disease; Hydrometrocolpos; Hydronephrosis; Oral facial digital syndrome; Polydactyly; Syndactyly; Vaginal atresia

Indexed keywords

APGAR SCORE; ARTICLE; BIRTH WEIGHT; CASE REPORT; CLEFT LIP; CLINICAL FEATURE; CONGENITAL HEART DISEASE; CONGESTIVE HEART FAILURE; CYANOSIS; DISEASE ASSOCIATION; DYSOSTOSIS; ECHOCARDIOGRAPHY; FEMALE; FOLLOW UP; FOOT SURGERY; HAMARTOMA; HAND SURGERY; HUMAN; HYDRONEPHROSIS; HYPERTELORISM; INFANT; INTENSIVE CARE UNIT; MITRAL VALVE REGURGITATION; NUCLEAR MAGNETIC RESONANCE IMAGING; POLAND SYNDROME; POLYDACTYLY; PRIORITY JOURNAL; RESPIRATORY DISTRESS; VAGINA ATRESIA; VAGINA RECONSTRUCTION; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; METHODOLOGY; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PLASTIC SURGERY; VAGINA;

EID: 55249117522     PISSN: 1060152X     EISSN: 14735865     Source Type: Journal    
DOI: 10.1097/BPB.0b013e3282ff4f77     Document Type: Article
Times cited : (4)

References (16)
  • 1
    • 38849209662 scopus 로고
    • Une malformation hereditaire de la muqueuse buccale: Brides et freins anormaux.
    • Papillon L, Psaume J. Une malformation hereditaire de la muqueuse buccale: brides et freins anormaux. Rev Stomatol 1954; 55:209-227.
    • (1954) Rev Stomatol , vol.55 , pp. 209-227
    • Papillon, L.1    Psaume, J.2
  • 2
    • 0027522655 scopus 로고
    • Review: Oral-facial-digital syndrome
    • Toriello HV. Review: oral-facial-digital syndrome. Clin Dysmorphol 1993; 2:95-105.
    • (1993) Clin Dysmorphol , vol.2 , pp. 95-105
    • Toriello, H.V.1
  • 3
    • 0027362529 scopus 로고
    • Oral-facial digital syndrome with fibular aplasia: A new variant
    • Figuera LE, Rivas F, Cantu JM. Oral-facial digital syndrome with fibular aplasia: a new variant. Clin Genet 1993; 44:190-192.
    • (1993) Clin Genet , vol.44 , pp. 190-192
    • Figuera, L.E.1    Rivas, F.2    Cantu, J.M.3
  • 4
    • 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. Oral-facial-digital syndrome: report on a transitional type between the Mohr and Varadi syndrome in a fetus. Am J Med Genet 1994; 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
  • 5
    • 0032528279 scopus 로고    scopus 로고
    • Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains
    • De Conciliis L, Marchitiello A, Wapenaar MC, Borsani G, Giglio S, Mariani M, et al. Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains. Genomics 1998; 51:243-250.
    • (1998) Genomics , vol.51 , pp. 243-250
    • De Conciliis, L.1    Marchitiello, A.2    Wapenaar, M.C.3    Borsani, G.4    Giglio, S.5    Mariani, M.6
  • 6
    • 67649938649 scopus 로고    scopus 로고
    • Identification of the gene for oral-facial-digital type I syndrome
    • Ferrante MI, Giorgio G, Feather SA. Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet 2001; 6:1163-1167.
    • (2001) Am J Hum Genet , vol.6 , pp. 1163-1167
    • Ferrante, M.I.1    Giorgio, G.2    Feather, S.A.3
  • 8
    • 0242678543 scopus 로고    scopus 로고
    • Oral-facial-digital syndrome VII is Oral-facial-digital syndrome I: A clarification
    • Nowaczyk MJM, Zeesman S, Whelan DT, Wright V, Feather SA. Oral-facial-digital syndrome VII is Oral-facial-digital syndrome I: a clarification. Am J Med Genet 2003; 123A:179-182.
    • (2003) Am J Med Genet , vol.123 A , pp. 179-182
    • Nowaczyk, M.J.M.1    Zeesman, S.2    Whelan, D.T.3    Wright, V.4    Feather, S.A.5
  • 9
    • 0032477710 scopus 로고    scopus 로고
    • Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: A review
    • Odent S, Le Marec B, Toutain A, David A, Vigneron J, Tréguier C, et al. Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review. Am J Med Genet 1998; 75:389-394.
    • (1998) Am J Med Genet , vol.75 , pp. 389-394
    • Odent, S.1    Le Marec, B.2    Toutain, A.3    David, A.4    Vigneron, J.5    Tréguier, C.6
  • 10
    • 0023119235 scopus 로고
    • Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum
    • Connacher AA, Forsyth CC, Stewart WK. Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum. J Med Genet 1987; 24:116-122.
    • (1987) J Med Genet , vol.24 , pp. 116-122
    • Connacher, A.A.1    Forsyth, C.C.2    Stewart, W.K.3
  • 11
    • 22044455716 scopus 로고    scopus 로고
    • Central nervous system malformations in oral-facial-digital syndrome, type 1
    • Holub M, Bodamer OA, Potocki L. Central nervous system malformations in oral-facial-digital syndrome, type 1. Am J Med Genet 2005; 136A:218.
    • (2005) Am J Med Genet , vol.136 A , pp. 218
    • Holub, M.1    Bodamer, O.A.2    Potocki, L.3
  • 12
    • 0033522782 scopus 로고    scopus 로고
    • Cardiac malformations in patients with oral-facial-skeletal syndromes: Clinical similarities with heterotaxia
    • Digilio MC, Marino B, Ammirati A, Borzaga U, Giannotti A, Dallapiccola B, et al. Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia. Am J Med Genet 1999; 84:350-356.
    • (1999) Am J Med Genet , vol.84 , pp. 350-356
    • Digilio, M.C.1    Marino, B.2    Ammirati, A.3    Borzaga, U.4    Giannotti, A.5    Dallapiccola, B.6
  • 13
    • 0025208291 scopus 로고
    • Orofaciodigital syndrome type IV (Mohr - Majewski syndrome) with severe expression expanding the known spectrum of anomalies
    • Meinecke P, Hayek H. Orofaciodigital syndrome type IV (Mohr - Majewski syndrome) with severe expression expanding the known spectrum of anomalies. J Med Genet 1990; 27:200-202.
    • (1990) J Med Genet , vol.27 , pp. 200-202
    • Meinecke, P.1    Hayek, H.2
  • 14
    • 0033774593 scopus 로고    scopus 로고
    • Prenatal diagnosis of oral-facial-digital syndrome, type I
    • Shipp TD, Chu GC, Benacerraf B. Prenatal diagnosis of oral-facial-digital syndrome, type I. J Ultrasound Med 2000; 19:491-494.
    • (2000) J Ultrasound Med , vol.19 , pp. 491-494
    • Shipp, T.D.1    Chu, G.C.2    Benacerraf, B.3
  • 15
    • 0027958508 scopus 로고
    • Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: A new multiple malformation syndrome, or a severe form of oral-facial-digital syndrome type IV?
    • Ades LC, Clapton WK, Morphett A, Morris LL, Haan EA. Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: a new multiple malformation syndrome, or a severe form of oral-facial-digital syndrome type IV? Am J Med Genet 1994; 49:211-217.
    • (1994) Am J Med Genet , vol.49 , pp. 211-217
    • Ades, L.C.1    Clapton, W.K.2    Morphett, A.3    Morris, L.L.4    Haan, E.A.5
  • 16
    • 0036155951 scopus 로고    scopus 로고
    • Penile agenesis and clavicular anomaly in a child with an oral facial digital syndrome
    • Yildirim S, Akan M, Deviren A, Akoz T. Penile agenesis and clavicular anomaly in a child with an oral facial digital syndrome. Clin Dysmorphol 2002; 11:29-32.
    • (2002) Clin Dysmorphol , vol.11 , pp. 29-32
    • Yildirim, S.1    Akan, M.2    Deviren, A.3    Akoz, T.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.