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Journal Abstract Search

135 related items for PubMed ID: 8281272

  • 1. Child with fronto-facio-nasal dysplasia, Hirschsprung's disease and hypospadias.
    Fryer AE.
    Clin Dysmorphol; 1993 Apr; 2(2):120-2. PubMed ID: 8281272
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  • 3. A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome.
    Richieri-Costa A, Colletto GM, Gollop TR, Masiero D.
    Am J Med Genet; 1985 Apr; 20(4):631-8. PubMed ID: 2986457
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  • 4. Ectodermal dysplasia, ectrodactyly, cleft lip/palate syndrome without ectrodactyly.
    Sankhyan N, Kaushal RK, Sarin S.
    Dermatol Online J; 2006 May 30; 12(4):5. PubMed ID: 17083860
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  • 5. [Chromosomal studies in craniofacial abnormalities].
    Ahrens K.
    HNO; 1967 Apr 30; 15(4):106-9. PubMed ID: 5592377
    [No Abstract] [Full Text] [Related]

  • 6. [Hypertelorism-hypospadias (BBB) syndrome. 2 additional family studies].
    Krause M, Meinecke P, Krins M, Grote W.
    Monatsschr Kinderheilkd; 1990 Jan 30; 138(1):31-3. PubMed ID: 2314402
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  • 8. A novel deletion in a Pearson syndrome infant with hypospadias and cleft lip and palate.
    Lohi O, Kuusela AL, Arola M.
    J Inherit Metab Dis; 2005 Jan 30; 28(6):1165-6. PubMed ID: 16435219
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  • 9. Cleft lip and palate, characteristic facial appearance, malrotation of the intestine, and lethal congenital heart disease in two sibs: a new autosomal recessive condition?
    McPherson E, Clemens M.
    Am J Med Genet; 1996 Mar 01; 62(1):58-60. PubMed ID: 8779326
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  • 10. The value of establishing the genetic component in etiology of craniofacial anomalies.
    Stewart RE.
    Birth Defects Orig Artic Ser; 1980 Mar 01; 16(5):27-33. PubMed ID: 7448376
    [No Abstract] [Full Text] [Related]

  • 11. [Fronto-nasal dysplasia (apropos of 4 cases)].
    Fontaine G, Walbaum R, Poupard B, Bonte C, Dhellemmes P, Maquet E, Ythier H, Stevenard C.
    J Genet Hum; 1983 Dec 01; 31 Suppl 5():351-65. PubMed ID: 6674411
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  • 13. Fronto-facio-nasal dysostosis - a new autosomal recessive syndrome.
    Gollop TR.
    Am J Med Genet; 1981 Dec 01; 10(4):409-12. PubMed ID: 7332033
    [No Abstract] [Full Text] [Related]

  • 14. Mental retardation, microbrachycephaly, hypotelorism, palpebral ptosis, thin/long face, cleft lip, and lumbosacral/pelvic anomalies.
    Richieri-Costa A, Guion-Almeida ML, Ramos AL.
    Am J Med Genet; 1992 Jun 01; 43(3):565-8. PubMed ID: 1605250
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  • 15. Marden-Walker syndrome: a case report and a critical review of the literature.
    Williams MS, Josephson KD, Wargowski DS.
    Clin Dysmorphol; 1993 Jul 01; 2(3):211-9. PubMed ID: 7506965
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  • 16. Schilbach-Rott syndrome in a third family: further delineation of an autosomal dominant trait.
    Becerra-Solano LE, Casillas-Avila MP, Díaz-Rodríguez M, Nastasi-Catanese JA, Toscano-Flores JJ, Ramírez-Dueñas ML.
    Genet Couns; 2007 Jul 01; 18(3):317-23. PubMed ID: 18019373
    [Abstract] [Full Text] [Related]

  • 17. Confirmation of Kapur-Toriello syndrome in an Italian patient.
    Zelante L, Candela MA, Savoia A, Gasparini P.
    Clin Dysmorphol; 1999 Apr 01; 8(2):151-3. PubMed ID: 10319207
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  • 18. Hypertelorism, proptosis, ptosis, polysyndactyly, hypospadias and normal height in 3 sibs: a new syndrome?
    Naguib KK.
    Am J Med Genet; 1988 Jan 01; 29(1):35-41. PubMed ID: 2830788
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  • 19. The telecanthus-hypospadias syndrome.
    Stevens CA, Wilroy RS.
    J Med Genet; 1988 Aug 01; 25(8):536-42. PubMed ID: 3050099
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