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Volumn 40, Issue 1, 2007, Pages 113-140

Congenital Malformations of the Eye and Orbit

Author keywords

[No Author keywords available]

Indexed keywords

ALAGILLE SYNDROME; ANIRIDIA; ANTERIOR SEGMENT DYSGENESIS; BLEPHAROPHIMOSIS; COLOBOMA; CONGENITAL CATARACT; CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY; CONGENITAL HEREDITARY STROMAL DYSTROPHY; CRX GENE; CYCLOPIA; DISEASE ASSOCIATION; ECTROPION; EMBRYO DEVELOPMENT; EYE DEVELOPMENT; EYE MALFORMATION; FKHL7 GENE; GENE; HESX1 GENE; HUMAN; HYPERTELORISM; HYPOTELORISM; JAG1 GENE; MITF GENE; OPTIC NERVE HYPOPLASIA; ORBIT MALFORMATION; PATHOPHYSIOLOGY; PAX2 GENE; PAX3 GENE; PAX6 GENE; PETERS ANOMALY; PITX2 GENE; PITX3 GENE; PROGNOSIS; PRPH GENE; PTOSIS; RENAL COLOBOMA SYNDROME; RETGC1 GENE; RETINA DYSTROPHY; REVIEW; RIEGER SYNDROME; RPE65 GENE; SEPTOOPTIC DYSPLASIA; SYSTEMIC DISEASE; WAARDENBURG SYNDROME TYPE 1; WAARDENBURG SYNDROME TYPE 2;

EID: 33847650440     PISSN: 00306665     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.otc.2006.11.013     Document Type: Review
Times cited : (49)

References (51)
  • 1
    • 0037310479 scopus 로고    scopus 로고
    • Congenital eye anomalies
    • Levin A.V. Congenital eye anomalies. Pediatr Clin North Am 50 1 (2003) 55-76
    • (2003) Pediatr Clin North Am , vol.50 , Issue.1 , pp. 55-76
    • Levin, A.V.1
  • 2
    • 8644243905 scopus 로고    scopus 로고
    • Dysmorphology and the orbital region: a practical clinical approach
    • Dollfus H., and Verloes A. Dysmorphology and the orbital region: a practical clinical approach. Surv Ophthalmol 49 6 (2004) 547-561
    • (2004) Surv Ophthalmol , vol.49 , Issue.6 , pp. 547-561
    • Dollfus, H.1    Verloes, A.2
  • 3
    • 0029079617 scopus 로고
    • The new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects
    • Epstein C.J. The new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects. Proc Natl Acad Sci U S A 92 (1995) 8566-8573
    • (1995) Proc Natl Acad Sci U S A , vol.92 , pp. 8566-8573
    • Epstein, C.J.1
  • 4
    • 0019972854 scopus 로고
    • The developmental field concept in clinical genetics
    • Opitz J.M. The developmental field concept in clinical genetics. J Pediatr 101 5 (1982) 805-809
    • (1982) J Pediatr , vol.101 , Issue.5 , pp. 805-809
    • Opitz, J.M.1
  • 5
    • 0031757435 scopus 로고    scopus 로고
    • Developmental eye disease-a genome era paradigm
    • van Heyningen V. Developmental eye disease-a genome era paradigm. Clin Genet 54 4 (1998) 272-282
    • (1998) Clin Genet , vol.54 , Issue.4 , pp. 272-282
    • van Heyningen, V.1
  • 7
    • 0037311697 scopus 로고    scopus 로고
    • Anatomy, development, and physiology of the visual system
    • Edward D.P., and Kaufman L.M. Anatomy, development, and physiology of the visual system. Pediatr Clin North Am 50 1 (2003) 1-23
    • (2003) Pediatr Clin North Am , vol.50 , Issue.1 , pp. 1-23
    • Edward, D.P.1    Kaufman, L.M.2
  • 9
    • 0033793783 scopus 로고    scopus 로고
    • Rieger syndrome: a clinical, molecular, and biochemical analysis
    • Amendt B.A., Semina E.V., and Alward W.L. Rieger syndrome: a clinical, molecular, and biochemical analysis. Cell Mol Life Sci 57 11 (2000) 1652-1666
    • (2000) Cell Mol Life Sci , vol.57 , Issue.11 , pp. 1652-1666
    • Amendt, B.A.1    Semina, E.V.2    Alward, W.L.3
  • 10
    • 0035125059 scopus 로고    scopus 로고
    • A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye
    • Nishimura D.Y., Searby C.C., Alward W.L., et al. A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. Am J Hum Genet 68 2 (2001) 364-372
    • (2001) Am J Hum Genet , vol.68 , Issue.2 , pp. 364-372
    • Nishimura, D.Y.1    Searby, C.C.2    Alward, W.L.3
  • 11
    • 18144437181 scopus 로고    scopus 로고
    • Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development
    • Smith R.S., Zabaleta A., Kume T., et al. Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development. Hum Mol Genet 9 7 (2000) 1021-1032
    • (2000) Hum Mol Genet , vol.9 , Issue.7 , pp. 1021-1032
    • Smith, R.S.1    Zabaleta, A.2    Kume, T.3
  • 12
    • 0029029812 scopus 로고
    • Aniridia: recent achievements in paediatric practice
    • Ivanov I., Shuper A., and Shohat M. Aniridia: recent achievements in paediatric practice. Eur J Pediatr 154 10 (1995) 795-800
    • (1995) Eur J Pediatr , vol.154 , Issue.10 , pp. 795-800
    • Ivanov, I.1    Shuper, A.2    Shohat, M.3
  • 13
    • 0036481925 scopus 로고    scopus 로고
    • Complications in the first year following cataract surgery with and without IOL in infants and older children
    • Plager D.A., Yang S., Neely D., et al. Complications in the first year following cataract surgery with and without IOL in infants and older children. J AAPOS 6 3 (2002) 133-135
    • (2002) J AAPOS , vol.6 , Issue.3 , pp. 133-135
    • Plager, D.A.1    Yang, S.2    Neely, D.3
  • 14
    • 26844451290 scopus 로고    scopus 로고
    • Expansion of the socket and orbit for congenital clinical anophthalmia
    • Gundlach K.K., Guthoff R.F., Hingst V.H., et al. Expansion of the socket and orbit for congenital clinical anophthalmia. Plast Reconstr Surg 116 5 (2005) 1214-1222
    • (2005) Plast Reconstr Surg , vol.116 , Issue.5 , pp. 1214-1222
    • Gundlach, K.K.1    Guthoff, R.F.2    Hingst, V.H.3
  • 15
    • 33645530617 scopus 로고    scopus 로고
    • Descriptive epidemiology of anophthalmia and microphthalmia, Hawaii, 1986-2001
    • Forrester M.B., and Merz R.D. Descriptive epidemiology of anophthalmia and microphthalmia, Hawaii, 1986-2001. Birth Defects Res Part A Clin Mol Teratol 76 3 (2006) 187-192
    • (2006) Birth Defects Res Part A Clin Mol Teratol , vol.76 , Issue.3 , pp. 187-192
    • Forrester, M.B.1    Merz, R.D.2
  • 16
    • 0023090609 scopus 로고
    • Ocular involvement in the fetal alcohol syndrome
    • Stromland K. Ocular involvement in the fetal alcohol syndrome. Surv Ophthalmol 31 4 (1987) 277-284
    • (1987) Surv Ophthalmol , vol.31 , Issue.4 , pp. 277-284
    • Stromland, K.1
  • 17
    • 0016305888 scopus 로고
    • Normal values for selected physical parameters: an aid to syndrome delineation
    • Feingold M., and Bossert W.H. Normal values for selected physical parameters: an aid to syndrome delineation. Birth Defects Orig Artic Ser 10 13 (1974) 1-16
    • (1974) Birth Defects Orig Artic Ser , vol.10 , Issue.13 , pp. 1-16
    • Feingold, M.1    Bossert, W.H.2
  • 18
    • 0024323952 scopus 로고
    • Orbital measurements in 63 hyperteloric patients. Differences between the anthropometric and cephalometric findings
    • Farkas L.G., Ross R.B., Posnick J.C., et al. Orbital measurements in 63 hyperteloric patients. Differences between the anthropometric and cephalometric findings. J Craniomaxillofac Surg 17 6 (1989) 249-254
    • (1989) J Craniomaxillofac Surg , vol.17 , Issue.6 , pp. 249-254
    • Farkas, L.G.1    Ross, R.B.2    Posnick, J.C.3
  • 19
    • 0031726745 scopus 로고    scopus 로고
    • Craniofacial variability index: a simple measure of normal and abnormal variation in the head and face
    • Ward R.E., Jamison P.L., and Farkas L.G. Craniofacial variability index: a simple measure of normal and abnormal variation in the head and face. Am J Med Genet 80 3 (1998) 232-240
    • (1998) Am J Med Genet , vol.80 , Issue.3 , pp. 232-240
    • Ward, R.E.1    Jamison, P.L.2    Farkas, L.G.3
  • 21
    • 0031728633 scopus 로고    scopus 로고
    • Holoprosencephaly: a defect in brain patterning
    • Golden J.A. Holoprosencephaly: a defect in brain patterning. J Neuropathol Exp Neurol 57 11 (1998) 991-999
    • (1998) J Neuropathol Exp Neurol , vol.57 , Issue.11 , pp. 991-999
    • Golden, J.A.1
  • 22
    • 0020064560 scopus 로고
    • Syndromes with cephaloceles
    • Cohen M.M., and Lemire R.J. Syndromes with cephaloceles. Teratology 25 2 (1982) 161-172
    • (1982) Teratology , vol.25 , Issue.2 , pp. 161-172
    • Cohen, M.M.1    Lemire, R.J.2
  • 25
    • 0001097932 scopus 로고
    • Epicanthal folds and the problem of telecanthus
    • Mustardé J. Epicanthal folds and the problem of telecanthus. Trans Ophthalmol Soc UK 83 (1963) 397-411
    • (1963) Trans Ophthalmol Soc UK , vol.83 , pp. 397-411
    • Mustardé, J.1
  • 26
    • 76949125703 scopus 로고
    • A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness
    • Waardenburg P.J. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet 3 (1951) 195-253
    • (1951) Am J Hum Genet , vol.3 , pp. 195-253
    • Waardenburg, P.J.1
  • 27
    • 0030739603 scopus 로고    scopus 로고
    • Waardenburg syndrome
    • Read A.P., and Newton V.E. Waardenburg syndrome. J Med Genet 34 8 (1997) 656-665
    • (1997) J Med Genet , vol.34 , Issue.8 , pp. 656-665
    • Read, A.P.1    Newton, V.E.2
  • 28
    • 0032922721 scopus 로고    scopus 로고
    • Clinical and molecular genetics of Stickler syndrome
    • Snead M.P., and Yates J.R. Clinical and molecular genetics of Stickler syndrome. J Med Genet 36 5 (1999) 353-359
    • (1999) J Med Genet , vol.36 , Issue.5 , pp. 353-359
    • Snead, M.P.1    Yates, J.R.2
  • 29
  • 30
    • 0026508774 scopus 로고
    • Cockayne syndrome: review of 140 cases
    • Nance M.A., and Berry S.A. Cockayne syndrome: review of 140 cases. Am J Med Genet 42 1 (1992) 68-84
    • (1992) Am J Med Genet , vol.42 , Issue.1 , pp. 68-84
    • Nance, M.A.1    Berry, S.A.2
  • 31
    • 0032913743 scopus 로고    scopus 로고
    • Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation
    • Biesecker L.G., Happle R., and Mulliken J.B. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet 84 5 (1999) 389-395
    • (1999) Am J Med Genet , vol.84 , Issue.5 , pp. 389-395
    • Biesecker, L.G.1    Happle, R.2    Mulliken, J.B.3
  • 32
  • 33
    • 0024467366 scopus 로고
    • Epicanthal folds: a deep tissue approach
    • Jordan D.R., and Anderson R.L. Epicanthal folds: a deep tissue approach. Arch Ophthalmol 107 10 (1989) 1532-1535
    • (1989) Arch Ophthalmol , vol.107 , Issue.10 , pp. 1532-1535
    • Jordan, D.R.1    Anderson, R.L.2
  • 34
    • 0032545430 scopus 로고    scopus 로고
    • Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome
    • Atchaneeyasakul L.O., Linck L.M., Connor W.E., et al. Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome. Am J Med Genet 80 5 (1998) 501-505
    • (1998) Am J Med Genet , vol.80 , Issue.5 , pp. 501-505
    • Atchaneeyasakul, L.O.1    Linck, L.M.2    Connor, W.E.3
  • 35
    • 0027089952 scopus 로고
    • Ocular manifestations of Noonan syndrome
    • Lee N.B., Kelly L., and Sharland M. Ocular manifestations of Noonan syndrome. Eye 6 3 (1992) 328-334
    • (1992) Eye , vol.6 , Issue.3 , pp. 328-334
    • Lee, N.B.1    Kelly, L.2    Sharland, M.3
  • 36
    • 0034583691 scopus 로고    scopus 로고
    • Saethre-Chotzen syndrome: review of the literature and report of a case
    • Clauser L., Galie M., Hassanipour A., et al. Saethre-Chotzen syndrome: review of the literature and report of a case. J Craniofac Surg 11 5 (2000) 480-486
    • (2000) J Craniofac Surg , vol.11 , Issue.5 , pp. 480-486
    • Clauser, L.1    Galie, M.2    Hassanipour, A.3
  • 37
    • 19444365725 scopus 로고    scopus 로고
    • Cornelia de Lange syndrome and the link between chromosomal function, DNA repair and developmental gene regulation
    • Strachan T. Cornelia de Lange syndrome and the link between chromosomal function, DNA repair and developmental gene regulation. Curr Opin Genet Dev 15 3 (2005) 258-264
    • (2005) Curr Opin Genet Dev , vol.15 , Issue.3 , pp. 258-264
    • Strachan, T.1
  • 38
    • 0020508397 scopus 로고
    • The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types
    • Zlotogora J., Sagi M., and Cohen T. The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. Am J Hum Genet 35 5 (1983) 1020-1027
    • (1983) Am J Hum Genet , vol.35 , Issue.5 , pp. 1020-1027
    • Zlotogora, J.1    Sagi, M.2    Cohen, T.3
  • 39
    • 0022447212 scopus 로고
    • Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth
    • Ohdo S., Madokoro H., Sonada T., et al. Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth. J Med Genet 23 3 (1986) 242-244
    • (1986) J Med Genet , vol.23 , Issue.3 , pp. 242-244
    • Ohdo, S.1    Madokoro, H.2    Sonada, T.3
  • 40
    • 0028946924 scopus 로고
    • Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p
    • Moncla A., Philip N., and Mattei J.F. Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p. J Med Genet 32 3 (1995) 245-246
    • (1995) J Med Genet , vol.32 , Issue.3 , pp. 245-246
    • Moncla, A.1    Philip, N.2    Mattei, J.F.3
  • 41
    • 3342986668 scopus 로고    scopus 로고
    • The role of midface lift and lateral canthal repositioning in the management of euryblepharon
    • Yip C.C., McCann J.D., and Goldberg R.A. The role of midface lift and lateral canthal repositioning in the management of euryblepharon. Arch Ophthalmol 122 7 (2004) 1075-1077
    • (2004) Arch Ophthalmol , vol.122 , Issue.7 , pp. 1075-1077
    • Yip, C.C.1    McCann, J.D.2    Goldberg, R.A.3
  • 42
    • 0019850335 scopus 로고
    • Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency
    • Niikawa N., Matsuura N., Fukushima Y., et al. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 99 4 (1981) 565-569
    • (1981) J Pediatr , vol.99 , Issue.4 , pp. 565-569
    • Niikawa, N.1    Matsuura, N.2    Fukushima, Y.3
  • 43
    • 0023280115 scopus 로고
    • Amniotic bands as a cause of ocular anomalies
    • Miller M.T., Deutsch T.A., Cronin C., et al. Amniotic bands as a cause of ocular anomalies. Am J Ophthalmol 104 3 (1987) 270-279
    • (1987) Am J Ophthalmol , vol.104 , Issue.3 , pp. 270-279
    • Miller, M.T.1    Deutsch, T.A.2    Cronin, C.3
  • 44
    • 0029119816 scopus 로고
    • Treacher Collins syndrome
    • Dixon M.J. Treacher Collins syndrome. J Med Genet 32 10 (1995) 806-808
    • (1995) J Med Genet , vol.32 , Issue.10 , pp. 806-808
    • Dixon, M.J.1
  • 45
    • 0037374844 scopus 로고    scopus 로고
    • Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome
    • Chandler K.E., Kidd A., Al-Gazali L., et al. Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. J Med Genet 40 4 (2003) 233-241
    • (2003) J Med Genet , vol.40 , Issue.4 , pp. 233-241
    • Chandler, K.E.1    Kidd, A.2    Al-Gazali, L.3
  • 47
    • 0017118874 scopus 로고
    • The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition
    • Hay R.J., and Wells R.S. The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition. Br J Dermatol 94 3 (1976) 277-289
    • (1976) Br J Dermatol , vol.94 , Issue.3 , pp. 277-289
    • Hay, R.J.1    Wells, R.S.2
  • 48
    • 0028361577 scopus 로고
    • Le syndrome de Rubinstein-Taybi
    • Lacombe D. Le syndrome de Rubinstein-Taybi. Arch Pediatr 1 7 (1994) 681-683
    • (1994) Arch Pediatr , vol.1 , Issue.7 , pp. 681-683
    • Lacombe, D.1
  • 49
    • 0000914496 scopus 로고
    • Congenital trichomegaly with associated pigmentary degeneration of the retina, dwarfism, and mental retardation
    • Oliver G.L., and McFarlane D.C. Congenital trichomegaly with associated pigmentary degeneration of the retina, dwarfism, and mental retardation. Arch Ophthalmol 74 (1965) 169-171
    • (1965) Arch Ophthalmol , vol.74 , pp. 169-171
    • Oliver, G.L.1    McFarlane, D.C.2
  • 50
    • 0029848940 scopus 로고    scopus 로고
    • Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome
    • Moshegov C.N. Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. Arch Ophthalmol 114 10 (1996) 1290-1291
    • (1996) Arch Ophthalmol , vol.114 , Issue.10 , pp. 1290-1291
    • Moshegov, C.N.1
  • 51
    • 0033365204 scopus 로고    scopus 로고
    • A gene for lymphedema-distichiasis maps to 16q24.3
    • Mangion J., Rahman N., Mansour S., et al. A gene for lymphedema-distichiasis maps to 16q24.3. Am J Hum Genet 65 2 (1999) 427-432
    • (1999) Am J Hum Genet , vol.65 , Issue.2 , pp. 427-432
    • Mangion, J.1    Rahman, N.2    Mansour, S.3


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