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International Birth Defects Information Systems - - - 볿
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쳿
(Lenz Microphthalmia Syndrome)

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         쳿 (LMS) - 쳺 / 쳺 , , , , .

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        볿 . ̳ . 60% , . , . [Ng . 2002]
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         " 쳿" " 쳿" . 쳿 . ( ) ( ). ' 쳿 [Wess . 1989]. 18,5 [Wess . 1989].
         糿, 糿 .

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        , , X- ANOP1 (Xq27-q28) ANOP2 (Xp11.4-p21.2) ' 쳿 .

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         , , . , 50% . , ; , , . . , .
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         . , , .[Hoefnagel . 1963, Ogunye ., 1975, Brunquell ., 1984, Ng ., 2002]. 쳿 - 1,2-1,8 10000.

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        ̳, - , - - . . ̳ . 볿, ' 쳺, 쳿 13 18; 18p, 13q 4p ( Wolf-Hrschhorn); 22q11.2. , , , , , . , 쳿 [Warburg 1993].

̲:

        309800  Microphthalmia Syndromic 1; MCOPS1.

˳:

  1. Brunquell PJ, Papale JH, Horton JC, Wllams RS, Zgrabk MJ, Albert DM, Hedley-Whyte ET. Sex-lnked heredtary blateral anophthalmos. Pathologc and radologc correlaton. Arch Ophthalmol. 1984;102:108-13.
  2. Forrester S, Kovach MJ, Reynolds NM, Urban R, Kmons V. Manfestatons n four males wth and an oblgate carrer of the Lenz mcrophthalma syndrome. Am J Med Genet. 2001;98:92-100.
  3. Graham CA, Redmond RM, Nevn NC. X-lnked clncal anophthalmos. Localzaton of the gene to Xq27-Xq28. Ophthalmc Paedatr Genet. 1991;12:43-8.
  4. Hoefnagel D, Keenan ME, Allen FH. Heredofamlal blateral anophthalma. Arch Ophthalmol. 1963;69:760-764.
  5. Lehman DM, Sponsel WE, Stratton RF, Mensah J, Macdonald JC, Johnson-Pas TL, Coon H, Reveles XT, Cody JD, Leach RJ. Genetc mappng of a novel X-lnked recessve colobomatous mcrophthalma. Am J Med Genet. 2001,101:114-9.
  6. Lenz W. Recessv-gesclechtsgebundene mkrophthalme mt multplen msbldungen. Z Knderhelkd. 1955;77:384-390.
  7. Ng D, Hadley DW, Tfft CJ, Besecker LG. Genetc heterogenety of syndromc X-lnked recessve mcrophthalma-anophthalma: s Lenz mcrophthalma a sngle dsorder? Am J Med Genet. 2002;110:308-14.
  8. Ogunye OO, Murray RF, Osgood T. Lnkage studes n Lenz mcrophthalma. Hum Hered. 1975;25:493-500.
  9. Warburg M. Classfcaton of mcrophthalmos and coloboma. J Med Genet. 1993;30:664-9.
  10. Wess AH, Kousseff BG, Ross EA, Longbottom J. Smple mcrophthalmos. Arch Ophthalmol. 1989;107:1625-30.

㳺 I.B.I.S.
19 2004 .



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