메뉴 건너뛰기




Volumn 63, Issue 3, 1996, Pages 472-478

EEC syndrome and genitourinary anomalies: An update

Author keywords

bladder epithelium; EEC syndrome; genitourinary anomalies; glucosaminoglycans; micturition problems; variability

Indexed keywords

GLYCOSAMINOGLYCAN;

EID: 0029888205     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960614)63:3<472::AID-AJMG11>3.0.CO;2-J     Document Type: Article
Times cited : (52)

References (51)
  • 2
    • 0000915823 scopus 로고
    • Interstitial deletion of 6q associated with ectrodactyly
    • Braverman N, Kline A, Pyeritz RE (1993): Interstitial deletion of 6q associated with ectrodactyly. Am J Hum Genet 53:410.
    • (1993) Am J Hum Genet , vol.53 , pp. 410
    • Braverman, N.1    Kline, A.2    Pyeritz, R.E.3
  • 3
    • 0016895431 scopus 로고
    • Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs
    • Bowen P, Armstrong HB (1976): Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs. Clin Genet 9:35-42.
    • (1976) Clin Genet , vol.9 , pp. 35-42
    • Bowen, P.1    Armstrong, H.B.2
  • 4
    • 0015476075 scopus 로고
    • The syndrome of ectrodactyly, ectodermal dysplasia, and cleft lip and palate: Report of a family demonstrating a dominant inheritance pattern
    • Brill CB, Hsu LYF, Hirschhorn K (1972): The syndrome of ectrodactyly, ectodermal dysplasia, and cleft lip and palate: Report of a family demonstrating a dominant inheritance pattern. Clin Genet 3:295-302.
    • (1972) Clin Genet , vol.3 , pp. 295-302
    • Brill, C.B.1    Hsu, L.Y.F.2    Hirschhorn, K.3
  • 5
  • 6
    • 0020979213 scopus 로고
    • Delezione interstiziale del braccio lungo del cromosoma 7 e sue correlazioni cliniche
    • Del Porto G, D'Alessandro E, De Matties C, LoRe M, DiFusco I (1983): Delezione interstiziale del braccio lungo del cromosoma 7 e sue correlazioni cliniche. Pathologica 75:268-271.
    • (1983) Pathologica , vol.75 , pp. 268-271
    • Del Porto, G.1    D'Alessandro, E.2    De Matties, C.3    LoRe, M.4    DiFusco, I.5
  • 7
    • 0020483636 scopus 로고
    • Associazone tra sindrome EEC e aplasia congenita della cute con epidermolisi bollosa
    • Duillo MT, deToni T, Cavalieri G, Cortese N, Carozinni L, Mitta ML, Naselli S (1982): Associazone tra sindrome EEC e aplasia congenita della cute con epidermolisi bollosa (An association between EEC syndrome and congenital aplasia of the skin with bullous epidermolysis). Minerva Pediatr 34:627-632.
    • (1982) Minerva Pediatr , vol.34 , pp. 627-632
    • Duillo, M.T.1    DeToni, T.2    Cavalieri, G.3    Cortese, N.4    Carozinni, L.5    Mitta, M.L.6    Naselli, S.7
  • 8
    • 0014819396 scopus 로고
    • A newly recognized genetic syndrome of tetramelic deficiencies, ectodermal dysplasia, deformed ears and other abnormalities
    • Freire-Maia N (1970): A newly recognized genetic syndrome of tetramelic deficiencies, ectodermal dysplasia, deformed ears and other abnormalities. Am J Hum Genet 22:370-377.
    • (1970) Am J Hum Genet , vol.22 , pp. 370-377
    • Freire-Maia, N.1
  • 9
    • 0015389787 scopus 로고
    • Fehlbildungs-Retardierungs-Syndrom mit Spalthänden-Spaltfüssen, Iriskolobom, Nierenagenesie und Ventrikelseptumdefekt
    • Gehler J, Grosse RF (1972): Fehlbildungs-Retardierungs-Syndrom mit Spalthänden-Spaltfüssen, Iriskolobom, Nierenagenesie und Ventrikelseptumdefekt. Klin Padiatr 184:389-592.
    • (1972) Klin Padiatr , vol.184 , pp. 389-592
    • Gehler, J.1    Grosse, R.F.2
  • 10
    • 0027379591 scopus 로고
    • Split hand/foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1
    • Genuardi M, Pomponi MG, Sammito V, Bellussi A, Zollino M, Neri G (1993): Split hand/foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1. Am J Med Genet 47: 823-831.
    • (1993) Am J Med Genet , vol.47 , pp. 823-831
    • Genuardi, M.1    Pomponi, M.G.2    Sammito, V.3    Bellussi, A.4    Zollino, M.5    Neri, G.6
  • 12
    • 0028859085 scopus 로고
    • Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: Further evidence for the existence of a limb defect gene in 6q21
    • Gurrieri F, Cammarata M, Avarello RM, Genuardi M, Pomponi MG, Neri G, Giuffrè L (1995): Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: Further evidence for the existence of a limb defect gene in 6q21. Am J Med Genet 55: 315-318.
    • (1995) Am J Med Genet , vol.55 , pp. 315-318
    • Gurrieri, F.1    Cammarata, M.2    Avarello, R.M.3    Genuardi, M.4    Pomponi, M.G.5    Neri, G.6    Giuffrè, L.7
  • 13
    • 0025955374 scopus 로고
    • EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations
    • Hasegawa T, Hasegawa Y, Asamura S, Nagai T, Tsuchiya Y, Ninomiya M, Fukushima Y (1991): EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations. Clin Genet 40:202-206.
    • (1991) Clin Genet , vol.40 , pp. 202-206
    • Hasegawa, T.1    Hasegawa, Y.2    Asamura, S.3    Nagai, T.4    Tsuchiya, Y.5    Ninomiya, M.6    Fukushima, Y.7
  • 14
    • 0022232821 scopus 로고
    • Updating a diagnosis: The EEC/EECUT syndrome
    • only
    • Hecht F (1985): Updating a diagnosis: The EEC/EECUT syndrome. Am J Dis Child 139:1185 (only).
    • (1985) Am J Dis Child , vol.139 , pp. 1185
    • Hecht, F.1
  • 15
    • 0020366280 scopus 로고
    • Coexisting ectrodactyly-ectodermal dysplasia-clefting (EEC) and prune belly syndromes: Report of a case
    • Ivarsson S, Henriksson P, Theander G (1982): Coexisting ectrodactyly-ectodermal dysplasia-clefting (EEC) and prune belly syndromes: Report of a case. Acta Radiol Diagn 23:287-292.
    • (1982) Acta Radiol Diagn , vol.23 , pp. 287-292
    • Ivarsson, S.1    Henriksson, P.2    Theander, G.3
  • 17
    • 34249741265 scopus 로고
    • Cleft lip/palate, ectodermal dysplasia, ectrodactyly and severe scalp defects
    • Johnson DF (1976): Cleft lip/palate, ectodermal dysplasia, ectrodactyly and severe scalp defects. Synd Ident IV:2-3.
    • (1976) Synd Ident , vol.4 , pp. 2-3
    • Johnson, D.F.1
  • 18
    • 0015739079 scopus 로고
    • Ectrodactyly, ectodermal dysplasia, and clefting syndrome
    • Kaiser-Kupfer M (1973): Ectrodactyly, ectodermal dysplasia, and clefting syndrome. Am J Ophthalmol 76:992-998.
    • (1973) Am J Ophthalmol , vol.76 , pp. 992-998
    • Kaiser-Kupfer, M.1
  • 20
    • 0027321122 scopus 로고
    • Split hand/split foot deformity and LADD syndrome in a family: Overlap between the EEC and LADD syndromes
    • Lacombe D, Serville F, Marchand D, Battin J (1992): Split hand/split foot deformity and LADD syndrome in a family: Overlap between the EEC and LADD syndromes. J Med Genet 30:700-703.
    • (1992) J Med Genet , vol.30 , pp. 700-703
    • Lacombe, D.1    Serville, F.2    Marchand, D.3    Battin, J.4
  • 21
    • 0022341195 scopus 로고
    • Urinary tract involvement in EEC syndrome
    • London R, Heredia RM, Israel J (1985): Urinary tract involvement in EEC syndrome. Am J Dis Child 139:1191-1193.
    • (1985) Am J Dis Child , vol.139 , pp. 1191-1193
    • London, R.1    Heredia, R.M.2    Israel, J.3
  • 22
    • 0014823845 scopus 로고
    • Lobster-claw deformities of the hands and feet
    • Maisels DO (1970): Lobster-claw deformities of the hands and feet. Br J Plast Surg 23:269-282.
    • (1970) Br J Plast Surg , vol.23 , pp. 269-282
    • Maisels, D.O.1
  • 25
    • 0019180222 scopus 로고
    • Trigeminal neuralgia due to dolichoectasia: Angiographic and CT findings in a patient with the EEC syndrome
    • Miner E, Rea GL, Handel S, Bertz J (1980): Trigeminal neuralgia due to dolichoectasia: Angiographic and CT findings in a patient with the EEC syndrome. Neuroradiology 20:163-166.
    • (1980) Neuroradiology , vol.20 , pp. 163-166
    • Miner, E.1    Rea, G.L.2    Handel, S.3    Bertz, J.4
  • 26
    • 0025099414 scopus 로고
    • Ectro-amelia syndrome associated with an interstitial deletion of 7q
    • Morey MA, Higgins RR (1990): Ectro-amelia syndrome associated with an interstitial deletion of 7q. Am J Med Genet 35:95-99.
    • (1990) Am J Med Genet , vol.35 , pp. 95-99
    • Morey, M.A.1    Higgins, R.R.2
  • 29
    • 0028100053 scopus 로고
    • A contiguous gene deletion syndrome at 7q21-q22 and implications for a relationship between isolated ectrodactyly and syndromic ectrodactyly
    • Nunes ME, Pagon RA, Disteche CJ, Evans JP (1994): A contiguous gene deletion syndrome at 7q21-q22 and implications for a relationship between isolated ectrodactyly and syndromic ectrodactyly. Clin Dysmorphol 3:277-286.
    • (1994) Clin Dysmorphol , vol.3 , pp. 277-286
    • Nunes, M.E.1    Pagon, R.A.2    Disteche, C.J.3    Evans, J.P.4
  • 30
    • 0020085291 scopus 로고
    • Prevention of urinary tract infection by the exogenous glycosaminoglycan sodium pentosanpolysulfate
    • Parsons CL (1982): Prevention of urinary tract infection by the exogenous glycosaminoglycan sodium pentosanpolysulfate. J Urol 127: 167-169.
    • (1982) J Urol , vol.127 , pp. 167-169
    • Parsons, C.L.1
  • 31
    • 0020609014 scopus 로고
    • Successful treatment of interstitial cystitis with sodium pentosanpolysulfate
    • Parsons CL, Schmidt JD, Pollen JJ (1983): Successful treatment of interstitial cystitis with sodium pentosanpolysulfate. J Urol 130: 51-53.
    • (1983) J Urol , vol.130 , pp. 51-53
    • Parsons, C.L.1    Schmidt, J.D.2    Pollen, J.J.3
  • 32
    • 0021328139 scopus 로고
    • Interstitial deletion of a chromosome 7(q11.2q22.1) in a child with split hand/foot malformation
    • Pfeiffer RA (1984): Interstitial deletion of a chromosome 7(q11.2q22.1) in a child with split hand/foot malformation. Ann Genet 27: 45-48.
    • (1984) Ann Genet , vol.27 , pp. 45-48
    • Pfeiffer, R.A.1
  • 33
    • 0015816718 scopus 로고
    • The lobster claw defect with ectodermal defects, cleft lip-palate, tear duct anomaly and renal anomalies
    • Preus M, Fraser FC (1973): The lobster claw defect with ectodermal defects, cleft lip-palate, tear duct anomaly and renal anomalies. Clin Genet 4:369-375.
    • (1973) Clin Genet , vol.4 , pp. 369-375
    • Preus, M.1    Fraser, F.C.2
  • 36
    • 0025837994 scopus 로고
    • Bilateral split hand and split foot malformation in a boy with de novo interstitial deletion of 7q21.3
    • Roberts SH, Hughes HE, Davies SJ, Meredith AL (1991): Bilateral split hand and split foot malformation in a boy with de novo interstitial deletion of 7q21.3. J Med Genet 28:479-481.
    • (1991) J Med Genet , vol.28 , pp. 479-481
    • Roberts, S.H.1    Hughes, H.E.2    Davies, S.J.3    Meredith, A.L.4
  • 37
    • 0025063276 scopus 로고
    • EEC syndrome: Report on 20 new patients. Clinical and genetics considerations
    • Rodini ESO, Richieri-Costa A (1990): EEC syndrome: Report on 20 new patients. Clinical and genetics considerations. Am J Med Genet 37:42-53.
    • (1990) Am J Med Genet , vol.37 , pp. 42-53
    • Rodini, E.S.O.1    Richieri-Costa, A.2
  • 38
    • 0023846219 scopus 로고
    • Genitourinary anomalies are a component manifestation in the ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome
    • Rollnick BR, Hoo JJ (1988): Genitourinary anomalies are a component manifestation in the ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome. Am J Med Genet 29:131-136.
    • (1988) Am J Med Genet , vol.29 , pp. 131-136
    • Rollnick, B.R.1    Hoo, J.J.2
  • 40
    • 0014831325 scopus 로고
    • Association of ectrodactyly, ectodermal dysplasia and cleft lip/palate. The EEC syndrome
    • Rüdiger RA, Haase W, Passarge E (1970): Association of ectrodactyly, ectodermal dysplasia and cleft lip/palate. The EEC syndrome. Am J Dis Child 120:160-163.
    • (1970) Am J Dis Child , vol.120 , pp. 160-163
    • Rüdiger, R.A.1    Haase, W.2    Passarge, E.3
  • 42
    • 0026334774 scopus 로고
    • Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2
    • Sharland M, Patton MA, Hill L (1991): Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2. Am J Med Genet 39:413-414.
    • (1991) Am J Med Genet , vol.39 , pp. 413-414
    • Sharland, M.1    Patton, M.A.2    Hill, L.3
  • 44
    • 0015840347 scopus 로고
    • Ectrodactyly, ectodermal dysplasia and cleft lip and palate (EEC syndrome)
    • Swallow JN, Gray OP, Harper PS (1973): Ectrodactyly, ectodermal dysplasia and cleft lip and palate (EEC syndrome). Br J Dermatol 89:54-56.
    • (1973) Br J Dermatol , vol.89 , pp. 54-56
    • Swallow, J.N.1    Gray, O.P.2    Harper, P.S.3
  • 45
    • 0024517762 scopus 로고
    • Interstitial long-arm deletion of chromosome 7 and ectrodactyly
    • Tajara EH, Varella-Garcia M, Gusson A (1989): Interstitial long-arm deletion of chromosome 7 and ectrodactyly. Am J Med Genet 32: 192-194.
    • (1989) Am J Med Genet , vol.32 , pp. 192-194
    • Tajara, E.H.1    Varella-Garcia, M.2    Gusson, A.3
  • 46
    • 0013656160 scopus 로고
    • The Genetics of Hand Malformations
    • New York: Alan R. Liss Inc. for the National Foundation - March of Dimes
    • Temtamy S, McKusick V (1978): "The Genetics of Hand Malformations." New York: Alan R. Liss Inc. for the National Foundation - March of Dimes, BD:OAS XIV(3):157-169.
    • (1978) BD:OAS , vol.14 , Issue.3 , pp. 157-169
    • Temtamy, S.1    McKusick, V.2
  • 47
    • 0027182938 scopus 로고
    • Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation
    • Viljoen DL, Smart R (1993): Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation. Clin Dysmorphol 2:274-277.
    • (1993) Clin Dysmorphol , vol.2 , pp. 274-277
    • Viljoen, D.L.1    Smart, R.2
  • 48
    • 0343276199 scopus 로고
    • The syndrome of cleft lip, cleft palate and lobster claw deformities of hands and feet
    • Walker JC, Clodius L ( 1963): The syndrome of cleft lip, cleft palate and lobster claw deformities of hands and feet. Plast Reconstr Surg 32:627-636.
    • (1963) Plast Reconstr Surg , vol.32 , pp. 627-636
    • Walker, J.C.1    Clodius, L.2
  • 49
    • 0023822671 scopus 로고
    • Ectrodactyly (split-hand/split foot) and ectodermal dysplasia with normal lip and palate in a four-generation kindred
    • Wallis CE (1988): Ectrodactyly (split-hand/split foot) and ectodermal dysplasia with normal lip and palate in a four-generation kindred. Clin Genet 34:252-257.
    • (1988) Clin Genet , vol.34 , pp. 252-257
    • Wallis, C.E.1
  • 51
    • 0027831551 scopus 로고
    • Syndactylies and polydactylies: Embryological overview and suggested classification
    • Winter RM, Tickle C (1993): Syndactylies and polydactylies: Embryological overview and suggested classification. Eur J Hum Genet 1: 96-104.
    • (1993) Eur J Hum Genet , vol.1 , pp. 96-104
    • Winter, R.M.1    Tickle, C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.