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Volumn 14, Issue 7, 2007, Pages 903-907

Fryns syndrome. Report on 3 new cases;Syndrome de Fryns. Présentation de 3 nouvelles observations

Author keywords

Abnormalities; abnormalities; diaphragmatic, congenital; Hernia; Infant; Lung; multiple; newborn; Syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLEFT LIP PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; CYTOGENETICS; DIAPHRAGM HERNIA; DISEASE SEVERITY; FRYNS SYNDROME; GENETIC COUNSELING; HUMAN; HYDRAMNIOS; HYPOXEMIA; KARYOTYPING; LYMPHOCYTE; NAIL HYPOPLASIA; NEWBORN; PHENOTYPE; PREGNANCY; RESPIRATORY DISTRESS SYNDROME; SKIN FIBROBLAST; BONE; CLEFT LIP; CLEFT PALATE; CRANIOFACIAL MALFORMATION; FEMALE; LUNG; MULTIPLE MALFORMATION SYNDROME; SYNDROME;

EID: 34250806532     PISSN: 0929693X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.arcped.2007.03.015     Document Type: Article
Times cited : (3)

References (22)
  • 1
    • 0018305302 scopus 로고
    • A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities
    • Fryns J.P., Moerman F., Goddeeris P., et al. A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. Hum. Genet. 50 (1979) 65-70
    • (1979) Hum. Genet. , vol.50 , pp. 65-70
    • Fryns, J.P.1    Moerman, F.2    Goddeeris, P.3
  • 2
    • 0020596403 scopus 로고
    • Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome
    • Lubinsky M., Severn C., and Rapoport J.M. Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome. Am. J. Med. Genet. 14 (1983) 461-466
    • (1983) Am. J. Med. Genet. , vol.14 , pp. 461-466
    • Lubinsky, M.1    Severn, C.2    Rapoport, J.M.3
  • 3
    • 0024515683 scopus 로고
    • Fryns syndrome: report on 8 new cases
    • Ayme S., Julian C., Gambarelli D., et al. Fryns syndrome: report on 8 new cases. Clin. Genet. 35 (1989) 191-201
    • (1989) Clin. Genet. , vol.35 , pp. 191-201
    • Ayme, S.1    Julian, C.2    Gambarelli, D.3
  • 4
    • 0024494910 scopus 로고
    • Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome
    • Bamforth J.S., Leonard C.O., Chodirker B.N., et al. Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome. Am. J. Med. Genet. 32 (1989) 93-99
    • (1989) Am. J. Med. Genet. , vol.32 , pp. 93-99
    • Bamforth, J.S.1    Leonard, C.O.2    Chodirker, B.N.3
  • 5
    • 0025343079 scopus 로고
    • Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia
    • Cunnif C., Jones K.L., Saal H.M., et al. Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia. Pediatrics 85 (1990) 499-504
    • (1990) Pediatrics , vol.85 , pp. 499-504
    • Cunnif, C.1    Jones, K.L.2    Saal, H.M.3
  • 6
    • 0027102220 scopus 로고
    • Fryns syndrome: another example of non-lethal outcome with severe mental handicap
    • Hanssen A.M., Schrander-Stumpel C.T., Thiry P.A., et al. Fryns syndrome: another example of non-lethal outcome with severe mental handicap. Genet. Couns. 3 (1992) 187-193
    • (1992) Genet. Couns. , vol.3 , pp. 187-193
    • Hanssen, A.M.1    Schrander-Stumpel, C.T.2    Thiry, P.A.3
  • 7
    • 0028910617 scopus 로고
    • Fryns syndrome: neurologic findings in a survivor
    • Riela A.R., Thomas I.T., Gonzalez A.R., et al. Fryns syndrome: neurologic findings in a survivor. J. Child Neurol. 10 (1995) 110-113
    • (1995) J. Child Neurol. , vol.10 , pp. 110-113
    • Riela, A.R.1    Thomas, I.T.2    Gonzalez, A.R.3
  • 9
    • 0942279747 scopus 로고    scopus 로고
    • Fryns syndrome: a review of the phenotype and diagnosis guidelines
    • Slavotinek A. Fryns syndrome: a review of the phenotype and diagnosis guidelines. Am. J. Med. Genet. A. 124 (2004) 427-433
    • (2004) Am. J. Med. Genet. A. , vol.124 , pp. 427-433
    • Slavotinek, A.1
  • 10
    • 0031712042 scopus 로고    scopus 로고
    • Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review
    • Enns G.M., Cox V.A., Goldstein R.B., et al. Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review. Am. J. Med. Genet. 79 (1998) 215-225
    • (1998) Am. J. Med. Genet. , vol.79 , pp. 215-225
    • Enns, G.M.1    Cox, V.A.2    Goldstein, R.B.3
  • 11
    • 30444443448 scopus 로고    scopus 로고
    • Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature
    • Alessandri J.L., Brayer C., Attali T., et al. Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature. Genet. Couns. 16 (2005) 363-370
    • (2005) Genet. Couns. , vol.16 , pp. 363-370
    • Alessandri, J.L.1    Brayer, C.2    Attali, T.3
  • 12
    • 0034684716 scopus 로고    scopus 로고
    • Variability in the phenotype expression of Fryns syndrome: a report of two sibships
    • Ramsing M., Gillessen-Kaesbach G., Holzgreve W., et al. Variability in the phenotype expression of Fryns syndrome: a report of two sibships. Am. J. Med. Genet. 95 (2000) 415-424
    • (2000) Am. J. Med. Genet. , vol.95 , pp. 415-424
    • Ramsing, M.1    Gillessen-Kaesbach, G.2    Holzgreve, W.3
  • 13
    • 0034605366 scopus 로고    scopus 로고
    • Discordant phenotype in monozygotic twins with Fryns syndrome
    • Vargas J.E., Cox G.F., and Korf B.R. Discordant phenotype in monozygotic twins with Fryns syndrome. Am. J. Med. Genet. 94 (2000) 42-45
    • (2000) Am. J. Med. Genet. , vol.94 , pp. 42-45
    • Vargas, J.E.1    Cox, G.F.2    Korf, B.R.3
  • 14
    • 0034537688 scopus 로고    scopus 로고
    • Lung hypoplasia in the nitrofen model of congenital diaphragmatic hernia occurs early in development
    • Guilbert T.W., Gebb S.A., and Shannon J.M. Lung hypoplasia in the nitrofen model of congenital diaphragmatic hernia occurs early in development. Am. J. Physiol. Lung Cell. Mol. Physiol. 279 (2000) L1159-L1171
    • (2000) Am. J. Physiol. Lung Cell. Mol. Physiol. , vol.279
    • Guilbert, T.W.1    Gebb, S.A.2    Shannon, J.M.3
  • 15
    • 0034981833 scopus 로고    scopus 로고
    • Prenatal exposure to nitrofen induces Fryns phenotype in mice
    • Acosta J.M., Chai Y., Meara J.G., et al. Prenatal exposure to nitrofen induces Fryns phenotype in mice. Ann. Plast. Surg. 46 (2001) 635-640
    • (2001) Ann. Plast. Surg. , vol.46 , pp. 635-640
    • Acosta, J.M.1    Chai, Y.2    Meara, J.G.3
  • 17
    • 24944579579 scopus 로고    scopus 로고
    • Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1
    • Slavotinek A., Lee S.S., Davis R., et al. Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. J. Med. Genet. 42 (2005) 730-736
    • (2005) J. Med. Genet. , vol.42 , pp. 730-736
    • Slavotinek, A.1    Lee, S.S.2    Davis, R.3
  • 18
    • 0036274878 scopus 로고    scopus 로고
    • Fryns syndrome: a surviving case with associated Hirschsprung's disease and hemi diaphragmatic agenesis
    • Davis C., and Samarakkody U. Fryns syndrome: a surviving case with associated Hirschsprung's disease and hemi diaphragmatic agenesis. J Pediatr Child Health 38 (2002) 318-320
    • (2002) J Pediatr Child Health , vol.38 , pp. 318-320
    • Davis, C.1    Samarakkody, U.2
  • 19
    • 11844260059 scopus 로고    scopus 로고
    • Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement
    • Alkuraya F.S., Lin A.E., Irons M.B., et al. Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. Am. J. Med.. Genet. 132A (2005) 226-230
    • (2005) Am. J. Med.. Genet. , vol.132 A , pp. 226-230
    • Alkuraya, F.S.1    Lin, A.E.2    Irons, M.B.3
  • 20
    • 0034816398 scopus 로고    scopus 로고
    • Novel mechanisms in murine nitrofen-induced pulmonary hypoplasia: FGF-10 rescue in culture
    • Acosta J.M., Thebaud B., Castillo C., et al. Novel mechanisms in murine nitrofen-induced pulmonary hypoplasia: FGF-10 rescue in culture. Am J Physol Lung Cell Mol Physiol 281 (2001) L250-L257
    • (2001) Am J Physol Lung Cell Mol Physiol , vol.281
    • Acosta, J.M.1    Thebaud, B.2    Castillo, C.3
  • 21
    • 0037405341 scopus 로고    scopus 로고
    • Etiology of congenital diaphragmatic hernia : the retinoid hypothesis
    • Greer J.J., Babiuk R.P., and Thebaud B. Etiology of congenital diaphragmatic hernia : the retinoid hypothesis. Pediatr. Res. 53 (2003) 726-730
    • (2003) Pediatr. Res. , vol.53 , pp. 726-730
    • Greer, J.J.1    Babiuk, R.P.2    Thebaud, B.3
  • 22
    • 0027938902 scopus 로고
    • Prenatal diagnosis and long survival of Fryns syndrome
    • Gadow E.C., Lippold S., Serafin E., et al. Prenatal diagnosis and long survival of Fryns syndrome. Prenat. Diagn. 14 (1994) 673-676
    • (1994) Prenat. Diagn. , vol.14 , pp. 673-676
    • Gadow, E.C.1    Lippold, S.2    Serafin, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.