Acondroplasia en Embarazo-Alex Quelal}

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  Acondroplasia y embara  ACONDROPLASIA YEMBARAZO ESTUDIANTE: ALEX DARIO QUELAL ZURITAUNIVERSIDAD TÉCNICA DE AMBATOFACULTAD CIENCIAS DE LA SALUDCARRERA MEDICINAGINECOLOGÍA Y OBSTETRICIA2017  INTRODUCCION La aco! o#$a%&a '% $a co!&c&( )*% co)+ a%oc&a!a a ,a '%-a-, a .a/a co  a'!'%# o#o c&( aa-()&ca La% co)#$&cac&o'% !' $a 3a '%#& a-o &a !&43c&$ co%-&-,5',a !' $a% ca,%a% )*% 4 'c,'-' !' %, )o .&$&!a! 5 )o -a$&!a!6 '- ' $a% ,' %' #,'!'c&-a 8 )ac o$o%&a6 '%ca%a a#' -, a .,ca$6 # '%'c&a !' ,a - *,'a '%- 'c9a6 $&)&-ac&(' $a )o&$&!a! c' &ca$6 # o.$')a% #,$)oa '% c (&co%6 )a!3.,$a #',':a coa$o)' ac&( !' $a !'-a!, a 5 )'-( # o)&'-'A,,' '% ,a a$-' ac&( #, a)'-' '%,'$;-&ca6 9a5 c&' -a% '4' )'!a!'% ,' %' # '%'-a co )a5o 4 'c,'c&a ' '%-o% #ac&'-'% < '%'-a !' 4o )a 4 'c,'-' '- a%o)o-o a$ ac' 6 o-&-&% )'!&a %' o%a6 &&-&% %' o%a6 9&#' $a=&-,! !' $a% o!&$$a% 5 ',a o>a$o6 o.%- ,cc&( %&-o)*-&ca !' $a% 3a% '%#& a-o &a% %,#' &o '%6 c&4o%&%-o aco$,).a 6 9&#' $o !o%&% $,).a 6 9&! oc'4a$&a6 co)# '%&( !'$ co !( )'!,$a ?#o  '%- 'c9'@ !'$ 4o a)' )*,) o #o '%-'o%&% !'$ caa$ )'!,$a 6 )a$oc$,%&( !'-a &aco )o !&!a a-' &o a.&' -a6 o.'%&!a! 5 ' a$,o% ca%o% !'%a o$$a , a,&-&%)o '%&%-'-'E '%-a-'% aco! o#$*%&ca% %' 'co)&'!a '$ #a -o #o c'%* 'a co a'%-'%&a '' a$%& ').a o6 'c&'-')'-' %' 9a '#o -a!o '$ ,%o !' -;c&ca% co!,c-&a% co '%,$-a!o% a!'c,a!o% DESARROLLO La aco! o#$a%&a '% , - a%-o o a o ,' oc, ' ' 1 ' 1000 ac&!o% &o% S&').a o6 '% '$ - a%-o o )*% co)+ '- ' )*% !' 100 -&#o% !&4' '-'% !' 'a&%)o S' 9' '!a co)o , a%o a,-o%()&co !o)&a-'6 #' o $a )a5o 3a !' $o% ca%o% ?0%o !'.&!o% a ),-ac&o'% !'$ 'c'#-o  !'$ 4ac-o !' c 'c&)&'-o !' 4&. o.$a%-o%?FGFR E%-o% &!&&!,o% -&'' , !'%a o$$o )'-a$ 5 %'=,a$ o )a$ 5 $a &!a +-&$-a).&; #,'!' %' o )a$ S& ').a o6 # o.$')a% co)o $a # ''c$a)#%&a6 #o$&9&! a)&o%6 co)# o)&%o '%#& a-o &o6 $a #'$&% co- a3!a ,' ',&' ' $a c'%* 'a !')'o %')'-o6 $a # ')a-, &!a! 5 '$ %,4 &)&'-o 4'-a$6 '-c6 9a %&!o '#o -a!o% Ua ca ac-' 3%-&ca -3#&ca ,' !'4&' '$ 'a&%)o '% ,a a$-, a a!,$-a !' )'o% !' 17c) ? #&'% 10 #,$a!a% Aco! o#$a%&a '% ,a !' $a% ca,%a% )*% co),'% !' 'a&%)o5 -a).&; '% '$ -&#o )*% co)+ !' .a/a '%-a-, a !'%# o#o c&oa!a E% , - a%-o o  ';-&co 9' '!a!o co)o , a%o a,-o%()&co !o)&a-'6 #' o $a )a5o 3a !' $o% ca%o%?06 S' !'.' a ),-ac&o'% ' '$ ' !'$ 'c'#-o !'$ 4ac-o !' c 'c&)&'-o !'4&. o.$a%-o%H- '% ?FGFRH $oca$&@a!o ' #1M*% !'  !' $o% #ac&'-'% -&'' $a)&%)a ),-ac&( #,-,a$ ' '$ ' !' FGFR 5 )*% !'$ 0 !' '$$o% %o ,'a%),-ac&o'% M,-ac&( ,' ca,%a $a aac&a !' $a 4,c&( FGFR a4'c-a a ),c9o%-'/&!o% )*% %o # '!'-')'-' $a #$aca !' c 'c&)&'-o ca -&$a&o%a ' '$ '%,'$'-o !'c 'c&)&'-o ,' co!,c' a ,a a &'!a! !' )a&4'%-ac&o'% 5 co)#$&cac&o'%No'-a5 oc9o #o c&'-o !' $o% ca%o% !' aco! o#$a%&a %o ca,%a!o% #o ,a ),-ac&( #,-,a$,' ca,%a $a %,%-&-,c&( !' A &&a #o G$5c&' ?G0R ' '$ !o)&&o- a%)'). aa !'$ ' FGFRH6 a,,' -a).&; %' 9a !'%c &-o o- a% ),-ac&o'% ,'ca,%a '4' )'!a!'%T&'' )*% # o.a.&$&!a!'% !' -'' 9&/o% co aco! o#$a%&a $o% #a! '% !' $o% &:o% coaco! o#$a%&a '%,$-a-' !' ,a ,'a ),-ac&( %,'$' -'' ,a '%-a-, a o )a$ S S' 9a !'%c &-o # o.$')a% !' &-,.ac&( !'.&!o # &c&#a$)'-' a $a !'4o )&!a!c a'o4ac&a$ 5 a $a 4,%&( # ')a-, a !' $o% 9,'%o% !' $a .a%' !'$ c *'o6 $o ,' co!,c'a ,a $&)&-ac&( !' $a '=-'%&( c' &ca$ A!')*%6 %' !'.' -'' # '%'-' ,' '%-a% #ac&'-'% #,'!' -'' !'.&$&!a! ),%c,$a a%oc&a!a ,' #,'!' ')#'o a co $aa'%-'%&a6 !;4&c&-% ', o$(&co% # ''=&%-'-'% 5 ,a 4,c&( #,$)oa '%#'c34&ca ,' o!'.' %' ')#'o a!o% Características clínicas de la acondrolasia: T oco o )a$6 . a@o% co -o% 5 #&' a% co -a% Ja5 aco -a)&'-o # o=&)a$ !' $o%)&'). o% ?'a&%)o &@o);$&co La a$-, a )'!&a !' $o% a!,$-o% '% !'  #&'% La ca.'@a #a 'c' )*%  a!' ,' '$ c,' #o6 co ,a # o)&'-' ca.'@a !'$a-' a 5 , #,'-'a#$aa!o !' $a a &@ Lo% !&'-'% #,'!' '%-a $$'o% !' )a$a a$&'ac&( La co$,)a' -'. a$ %,'$' '%-a 'c-a ' $a #a -' %,#' &o !' $a '%#a$!a co ,a )a ca!a $o !o%&%$,).a  La% ao )a$&!a!'% !' $a ; -'. a -o acoH$,).a #,'!' co!,c& a c&4o%&% ' $a&4ac&a6 ,' !'%a#a 'c' ,a '@ ,' '$ &:o co)&'@a a ca)&a 6 #' o #,'!' ca,%a  co)# '%&( !' $a );!,$a '%#&a$ ?'%-'o%&% '%#&a$ $,).a  <,'!' 9a.' &c$&ac&( !'$a% #&' a% 5 $o% #&'% %o '' a$)'-' co -o% 5 #$ao% La% )ao% %o co -a% co !'!o%co -o% 5 #,'!' 9a.' ,a )ao - &!'-' ?%'#a ac&( '- ' $o% !'!o% )'!&o 5 a,$a 
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