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Volumn 34, Issue 12, 2014, Pages 1227-1230

Prenatal and postnatal findings in five cases of Fryns syndrome

Author keywords

[No Author keywords available]

Indexed keywords

PERIPHERAL MYELIN PROTEIN 22;

EID: 84914171399     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4447     Document Type: Article
Times cited : (5)

References (17)
  • 1
    • 0024515683 scopus 로고
    • Fryns syndrome: report on 8 new cases
    • Aymé S, Julian C, Gambarelli D, et al. Fryns syndrome: report on 8 new cases. Clin Genet 1989;35:191-201.
    • (1989) Clin Genet , vol.35 , pp. 191-201
    • Aymé, S.1    Julian, C.2    Gambarelli, D.3
  • 2
    • 0942279747 scopus 로고    scopus 로고
    • Fryns syndrome: a review of the phenotype and diagnostic guidelines
    • Slavotinek AM. Fryns syndrome: a review of the phenotype and diagnostic guidelines. Am J Med Genet A 2004;124A(4):427-33.
    • (2004) Am J Med Genet A , vol.124 A , Issue.4 , pp. 427-433
    • Slavotinek, A.M.1
  • 3
    • 0034605366 scopus 로고    scopus 로고
    • Discordant phenotype in monozygotic twins with Fryns syndrome
    • Vargas JE, Cox GF, Korf BR. Discordant phenotype in monozygotic twins with Fryns syndrome. Am J Med Genet 2000;94(1):42-5.
    • (2000) Am J Med Genet , vol.94 , Issue.1 , pp. 42-45
    • Vargas, J.E.1    Cox, G.F.2    Korf, B.R.3
  • 4
    • 84902285518 scopus 로고    scopus 로고
    • Fryns Syndrome: a lethal birth defect with variable phenotypic expressions in siblings
    • Arora K, Thukral A, Das RR, et al. Fryns Syndrome: a lethal birth defect with variable phenotypic expressions in siblings. Indian J Pediatr 2014;81(6):614-16.
    • (2014) Indian J Pediatr , vol.81 , Issue.6 , pp. 614-616
    • Arora, K.1    Thukral, A.2    Das, R.R.3
  • 5
    • 0023202062 scopus 로고
    • Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia
    • Fryns JP. Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia. J Med Genet 1987;24(5):271-4.
    • (1987) J Med Genet , vol.24 , Issue.5 , pp. 271-274
    • Fryns, J.P.1
  • 6
    • 28444496732 scopus 로고    scopus 로고
    • Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells?
    • Lin AE, Pober BR, Mullen MP, Slavotinek AM. Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells? Am J Med Genet A 2005;139(3):186-93.
    • (2005) Am J Med Genet A , vol.139 , Issue.3 , pp. 186-193
    • Lin, A.E.1    Pober, B.R.2    Mullen, M.P.3    Slavotinek, A.M.4
  • 7
    • 0028792594 scopus 로고
    • Fryns syndrome survivors and neurologic outcome
    • Van Hove JL, Spiridigliozzi GA, Heinz R, et al. Fryns syndrome survivors and neurologic outcome. Am J Med Genet 1995;59(3):334-40.
    • (1995) Am J Med Genet , vol.59 , Issue.3 , pp. 334-340
    • Van Hove, J.L.1    Spiridigliozzi, G.A.2    Heinz, R.3
  • 8
    • 24944579579 scopus 로고    scopus 로고
    • Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1
    • Slavotinek A, Lee SS, Davis R, et al. Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. J Med Genet 2005;42(9):730-6.
    • (2005) J Med Genet , vol.42 , Issue.9 , pp. 730-736
    • Slavotinek, A.1    Lee, S.S.2    Davis, R.3
  • 9
    • 0036897371 scopus 로고    scopus 로고
    • Fryns syndrome in children with congenital diaphragmatic hernia
    • Neville HL, Jaksic T, Wilson JM, et al. Fryns syndrome in children with congenital diaphragmatic hernia. J Pediatr Surg 2002;37(12):1685-7.
    • (2002) J Pediatr Surg , vol.37 , Issue.12 , pp. 1685-1687
    • Neville, H.L.1    Jaksic, T.2    Wilson, J.M.3
  • 10
    • 84555187664 scopus 로고    scopus 로고
    • Fetal surgery for severe congenital diaphragmatic hernia?
    • Jani JC, Nicolaides KH. Fetal surgery for severe congenital diaphragmatic hernia? Ultrasound Obstet Gynecol 2012;39(1):7-9.
    • (2012) Ultrasound Obstet Gynecol , vol.39 , Issue.1 , pp. 7-9
    • Jani, J.C.1    Nicolaides, K.H.2
  • 11
    • 0032167521 scopus 로고    scopus 로고
    • Fryns syndrome: prenatal diagnosis and pathologic correlation
    • Sheffield JS, Twickler DM, Timmons C, et al. Fryns syndrome: prenatal diagnosis and pathologic correlation. J Ultrasound Med 1998;17(9):585-9.
    • (1998) J Ultrasound Med , vol.17 , Issue.9 , pp. 585-589
    • Sheffield, J.S.1    Twickler, D.M.2    Timmons, C.3
  • 12
    • 0842282916 scopus 로고    scopus 로고
    • The role of ultrasound in the diagnosis of Fryns syndrome
    • Saliani P, Epstein S, Cohen D. The role of ultrasound in the diagnosis of Fryns syndrome. J Diagn Med Sonogr 2004;20:42-5.
    • (2004) J Diagn Med Sonogr , vol.20 , pp. 42-45
    • Saliani, P.1    Epstein, S.2    Cohen, D.3
  • 13
    • 0029781606 scopus 로고    scopus 로고
    • Use of three-dimensional ultrasound to establish the prenatal diagnosis of Fryns syndrome
    • Van Wymersch D, Favre R, Gasser B. Use of three-dimensional ultrasound to establish the prenatal diagnosis of Fryns syndrome. Fetal Diagn Ther 1996;11(5):335-40.
    • (1996) Fetal Diagn Ther , vol.11 , Issue.5 , pp. 335-340
    • Van Wymersch, D.1    Favre, R.2    Gasser, B.3
  • 14
    • 33646548571 scopus 로고    scopus 로고
    • Cleft of the secondary palate without cleft lip diagnosed with three-dimensional ultrasound and magnetic resonance imaging in a fetus with Fryns' syndrome
    • Benacerraf BR, Sadow PM, Barnewolt CE, et al. Cleft of the secondary palate without cleft lip diagnosed with three-dimensional ultrasound and magnetic resonance imaging in a fetus with Fryns' syndrome. Ultrasound Obstet Gynecol 2006;27(5):566-70.
    • (2006) Ultrasound Obstet Gynecol , vol.27 , Issue.5 , pp. 566-570
    • Benacerraf, B.R.1    Sadow, P.M.2    Barnewolt, C.E.3
  • 15
    • 44349112482 scopus 로고    scopus 로고
    • Fryns syndrome: case report and review of the literature
    • Yucesoy G, Cakiroglu Y, Caliskan E. Fryns syndrome: case report and review of the literature. J Clin Ultrasound 2008;36(5):315-7.
    • (2008) J Clin Ultrasound , vol.36 , Issue.5 , pp. 315-317
    • Yucesoy, G.1    Cakiroglu, Y.2    Caliskan, E.3
  • 16
    • 0024269679 scopus 로고
    • The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome
    • Moerman P, Fryns JP, Vandenberghe K, et al. The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome. Am J Med Genet 1988;31(4):805-14.
    • (1988) Am J Med Genet , vol.31 , Issue.4 , pp. 805-814
    • Moerman, P.1    Fryns, J.P.2    Vandenberghe, K.3
  • 17
    • 0024494910 scopus 로고
    • Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome
    • Bamforth JS, Leonard CO, Chodirker BN, et al. Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome. Am J Med Genet 1989;32(1):93-9.
    • (1989) Am J Med Genet , vol.32 , Issue.1 , pp. 93-99
    • Bamforth, J.S.1    Leonard, C.O.2    Chodirker, B.N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.