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Volumn 143, Issue 24, 2007, Pages 3194-3203

Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria

(34)  Van Haelst, Mieke M a,d   Scambler, Peter J a   Hennekam, Raoul C M a,b,c   Al Gazali, Lihadt d   Aytes, Perez d   Bonato, Arianna d   Chitayat, David d   Dobbie, Angus d   Donnai, Dian d   Elmslie, Frances d   Ferreira, Jose d   Francannet, Christine d   Gilbert, Brigitte d   Graham, John d   Hennekam, Raoul d   Holder, Sue d   Kerr, Bronwyn d   Maas, Saskia d   Megarbane, Andre d   Meinecke, Peter d   more..

d NONE

Author keywords

Cryptophthalmos; Fraser syndrome; Revised diagnostic criteria

Indexed keywords

AMNION FLUID; CLEFT LIP; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL STUDY; CONFERENCE PAPER; CONTROLLED STUDY; FRASER SYNDROME; HUMAN; MENTAL DEFICIENCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 37249027239     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31951     Document Type: Conference Paper
Times cited : (79)

References (38)
  • 1
    • 0033368974 scopus 로고    scopus 로고
    • Cryptophthalmos syndrome (Fraser syndrome) with cardiac findings in a Saudi Newborn
    • Aqeel A, Al-Alaiyan S. 1999. Cryptophthalmos syndrome (Fraser syndrome) with cardiac findings in a Saudi Newborn. Ann Saudi Med 4:357-358.
    • (1999) Ann Saudi Med , vol.4 , pp. 357-358
    • Aqeel, A.1    Al-Alaiyan, S.2
  • 3
    • 0001913947 scopus 로고
    • Variations in expression in cryptophthalmos syndrome
    • Bieber FR, Page DV, Holmes LB. 1982. Variations in expression in cryptophthalmos syndrome. Am J Hum Genet 34:81A.
    • (1982) Am J Hum Genet , vol.34
    • Bieber, F.R.1    Page, D.V.2    Holmes, L.B.3
  • 4
    • 0025973202 scopus 로고
    • New observations on midline defects - coincidence of anophthalmos, microphthalmos and cryptophthalmos with hypothalamic disorders
    • Bierich JR, Christie M, Heinrich JJ, Martinez AS. 1991. New observations on midline defects - coincidence of anophthalmos, microphthalmos and cryptophthalmos with hypothalamic disorders. Eur J Pediatr 150:246-249.
    • (1991) Eur J Pediatr , vol.150 , pp. 246-249
    • Bierich, J.R.1    Christie, M.2    Heinrich, J.J.3    Martinez, A.S.4
  • 5
    • 0023767119 scopus 로고
    • Fraser syndrome (Cryptophthalmos-Syndactyly Syndrome) - a review of 11 cases with postmortem findings
    • Boyd PA, Keeling JW, Lindenbaum RH. 1988. Fraser syndrome (Cryptophthalmos-Syndactyly Syndrome) - a review of 11 cases with postmortem findings. Am J Med Genet 31:159-168.
    • (1988) Am J Med Genet , vol.31 , pp. 159-168
    • Boyd, P.A.1    Keeling, J.W.2    Lindenbaum, R.H.3
  • 6
    • 0017148247 scopus 로고
    • Bilateral renal agenesis with multiple congenital ocular anomalies
    • Brownstein S, Kirkham TH, Kalousek DK. 1976. Bilateral renal agenesis with multiple congenital ocular anomalies. Am J Ophthalmol 82:770-774.
    • (1976) Am J Ophthalmol , vol.82 , pp. 770-774
    • Brownstein, S.1    Kirkham, T.H.2    Kalousek, D.K.3
  • 7
    • 0019968993 scopus 로고
    • Fraser syndrome presenting as bilateral renal agenesis in 3 sibs
    • Burn J, Marwood RP. 1982. Fraser syndrome presenting as bilateral renal agenesis in 3 sibs. J Med Genet 19:360-361.
    • (1982) J Med Genet , vol.19 , pp. 360-361
    • Burn, J.1    Marwood, R.P.2
  • 8
    • 33846828781 scopus 로고    scopus 로고
    • Fraser and ablepharon macrostomia phenotypes: Concurrence in one family and association with mutated FRAS1
    • Cavalcanti DP, Matejas V, Luquetti D, Mello MF, Zenker M. 2007. Fraser and ablepharon macrostomia phenotypes: Concurrence in one family and association with mutated FRAS1. Am J Med Genet Part A 143A:241-247.
    • (2007) Am J Med Genet , vol.143 A , Issue.PART A , pp. 241-247
    • Cavalcanti, D.P.1    Matejas, V.2    Luquetti, D.3    Mello, M.F.4    Zenker, M.5
  • 10
    • 33748304531 scopus 로고    scopus 로고
    • The normal position of the umbilicus in the newborn: An aid to improving the cosmetic result in exomphalos major
    • Davari HA, Nazem M, Hosseinpour M. 2006. The normal position of the umbilicus in the newborn: An aid to improving the cosmetic result in exomphalos major. J Indian Assoc Pediatr Surg 11:133-135.
    • (2006) J Indian Assoc Pediatr Surg , vol.11 , pp. 133-135
    • Davari, H.A.1    Nazem, M.2    Hosseinpour, M.3
  • 13
    • 0013840859 scopus 로고
    • Malformation syndrome with cryptophthalmos
    • Francois J. 1965. Malformation syndrome with cryptophthalmos. Ophthalmologica 150:215-218.
    • (1965) Ophthalmologica , vol.150 , pp. 215-218
    • Francois, J.1
  • 14
    • 84981807786 scopus 로고
    • Our genetic 'load'. A review of some aspects of genetic variation
    • Fraser GR. 1962. Our genetic 'load'. A review of some aspects of genetic variation. Ann Hum Genet 25:387-415.
    • (1962) Ann Hum Genet , vol.25 , pp. 387-415
    • Fraser, G.R.1
  • 15
    • 0023242382 scopus 로고
    • The clinical spectrum of the Fraser syndrome - report of 3 new cases and review
    • Gattuso J, Patton MA, Baraitser M. 1987. The clinical spectrum of the Fraser syndrome - report of 3 new cases and review. J Med Genet 24:549-555.
    • (1987) J Med Genet , vol.24 , pp. 549-555
    • Gattuso, J.1    Patton, M.A.2    Baraitser, M.3
  • 16
    • 0022647671 scopus 로고
    • Gonadal dysgenesis and gonadoblastoma in situ in a female with Fraser (cryptophthalmos) syndrome
    • Greenberg F, Keenan B, De Y, Finegold M. 1986. Gonadal dysgenesis and gonadoblastoma in situ in a female with Fraser (cryptophthalmos) syndrome. J Pediatr 108:952-954.
    • (1986) J Pediatr , vol.108 , pp. 952-954
    • Greenberg, F.1    Keenan, B.2    De, Y.3    Finegold, M.4
  • 17
    • 0141522641 scopus 로고    scopus 로고
    • Fraser-cryptophthalmos syndrome with cardiovascular malformations: A rare association
    • Hambire SD, Bhavsar PP, Jayakar AV. 2003. Fraser-cryptophthalmos syndrome with cardiovascular malformations: A rare association. Indian Pediatr 40:888-890.
    • (2003) Indian Pediatr , vol.40 , pp. 888-890
    • Hambire, S.D.1    Bhavsar, P.P.2    Jayakar, A.V.3
  • 21
    • 0022470713 scopus 로고
    • Cryptophthalmos - syndactyly syndrome without cryptophthalmos
    • Koenig R, Spranger J. 1986. Cryptophthalmos - syndactyly syndrome without cryptophthalmos. Clin Genet 29:413-416.
    • (1986) Clin Genet , vol.29 , pp. 413-416
    • Koenig, R.1    Spranger, J.2
  • 22
    • 0021265725 scopus 로고
    • Renal agenesis as a diagnostic feature of the cryptophthalmos-syndactyly syndrome
    • Lurie IW, Cherstvoy ED. 1984. Renal agenesis as a diagnostic feature of the cryptophthalmos-syndactyly syndrome. Clin Genet 25:528-532.
    • (1984) Clin Genet , vol.25 , pp. 528-532
    • Lurie, I.W.1    Cherstvoy, E.D.2
  • 23
    • 0026561465 scopus 로고
    • New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians
    • Marles SL, Greenberg CR, Persaud TV, Shuckett EP, Chudley AE. 1992. New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians. Am J Med Genet 42:793-799.
    • (1992) Am J Med Genet , vol.42 , pp. 793-799
    • Marles, S.L.1    Greenberg, C.R.2    Persaud, T.V.3    Shuckett, E.P.4    Chudley, A.E.5
  • 26
    • 0023720909 scopus 로고
    • ENT abnormalities associated with Fraser syndrome: Case report and literature review
    • Mina MM, Greenberg C, Levin B. 1988. ENT abnormalities associated with Fraser syndrome: Case report and literature review. J Otolaryngol 17:233-236.
    • (1988) J Otolaryngol , vol.17 , pp. 233-236
    • Mina, M.M.1    Greenberg, C.2    Levin, B.3
  • 28
    • 0025058360 scopus 로고
    • Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn
    • Ramsing M, Rehder H, Holzgreve W, Meinecke P, Lenz W. 1990. Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn. Clin Genet 37:84-96.
    • (1990) Clin Genet , vol.37 , pp. 84-96
    • Ramsing, M.1    Rehder, H.2    Holzgreve, W.3    Meinecke, P.4    Lenz, W.5
  • 29
    • 0018779085 scopus 로고
    • Median cleft face syndrome or frontonasal dysplasia: A case report with associated kidney malformation
    • Roizenblatt J, Wajntal A, Diament AJ. 1979. Median cleft face syndrome or frontonasal dysplasia: A case report with associated kidney malformation. J Pediatr Ophthalmol Strabismus 16:16-20.
    • (1979) J Pediatr Ophthalmol Strabismus , vol.16 , pp. 16-20
    • Roizenblatt, J.1    Wajntal, A.2    Diament, A.J.3
  • 31
    • 0024643926 scopus 로고
    • Fraser syndrome: Prenatal ultrasonic detection
    • Serville F, Carles D, Broussin B. 1989. Fraser syndrome: Prenatal ultrasonic detection. Am J Med Genet 32:501-563.
    • (1989) Am J Med Genet , vol.32 , pp. 501-563
    • Serville, F.1    Carles, D.2    Broussin, B.3
  • 32
    • 0036712853 scopus 로고    scopus 로고
    • Fraser syndrome and cryptophthalmos: Review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes
    • Slavotinek AM, Tifft CJ. 2002. Fraser syndrome and cryptophthalmos: Review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. J Med Genet 39:623-633.
    • (2002) J Med Genet , vol.39 , pp. 623-633
    • Slavotinek, A.M.1    Tifft, C.J.2
  • 33
    • 0015818287 scopus 로고
    • Widow's peak scalp-hair anomaly and its relation to ocular hypertelorism
    • Smith DW, Cohen MM. 1973. Widow's peak scalp-hair anomaly and its relation to ocular hypertelorism. Lancet 2 1127-1128.
    • (1973) Lancet , vol.2 , pp. 1127-1128
    • Smith, D.W.1    Cohen, M.M.2
  • 34
    • 27744516069 scopus 로고    scopus 로고
    • The genetics of Fraser syndrome and the blebs mouse mutants
    • Smyth I, Scambler P. 2005. The genetics of Fraser syndrome and the blebs mouse mutants. Hum Mol Genet 14 R269-R274.
    • (2005) Hum Mol Genet , vol.14
    • Smyth, I.1    Scambler, P.2
  • 36
    • 0034931638 scopus 로고    scopus 로고
    • The normal position of the umbilicus in the newborn: An aid to improving the cosmetic result in exomphalos major
    • Williams AM, Brain JL. 2001. The normal position of the umbilicus in the newborn: An aid to improving the cosmetic result in exomphalos major. J Pediatr Surg 36:1045-1046.
    • (2001) J Pediatr Surg , vol.36 , pp. 1045-1046
    • Williams, A.M.1    Brain, J.L.2
  • 37
    • 0025309267 scopus 로고
    • Fraser syndrome and mouse 'bleb' mutants
    • Winter RM. 1990. Fraser syndrome and mouse 'bleb' mutants. Clin Genet 37:494-495.
    • (1990) Clin Genet , vol.37 , pp. 494-495
    • Winter, R.M.1
  • 38
    • 0025089426 scopus 로고
    • Case report: Fraser syndrome, cryptophthalmos with small bowel malrotation
    • Woodhead P, Hall C. 1990. Case report: Fraser syndrome, cryptophthalmos with small bowel malrotation. Clin Radiol 42:362-363.
    • (1990) Clin Radiol , vol.42 , pp. 362-363
    • Woodhead, P.1    Hall, C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.