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8/17/2019 Sx de Marfan-stickler Finalkey
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SÍNDROME DEMARFANGENÉTICA MÉDICA
DRA. SYLVIA ELENA TOTSUKA SUTTO
HUMBERTO J. J. LÓPEZ ZEPEDA
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SINÓNIMOS-“SÍNDROME DE MARFAN TIPOl-“MFS !
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HISTORIA
• GABRIELLE" P. # TB
• “DOLICHOSTÉNOMÉLIE
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MAGNITUD
•
!$ %"&&&- '"&&& E.U.A• !$(&"&&& MÉ)ICO
• GRAY Y DAVIES *!++, " MURDOCH *!+ ( YSILVERMAN *!++'
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TRASCENDENCIA
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NIFESTACIONES
NICAS
NOSOLOGÍA DE
GHENT *REVISADA
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CRITERIOSMAYORES!.-EL / A01 SMF
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SCORE SISTÉMICO
TOTAL M2)IMO (O PTS3
UN SCORE 4 INDICA AFECCIÓN SISTÉMICA
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S56789:M;675
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1 pto
1 pto
1 pto
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3 pts - 1 pto
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1 pto 1 pto
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1pto
2 pts2 pts
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2 pts
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HALLAZGOSFACIALES
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3/5 = 1pto
HALLAZGOSFACIALES
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1pto
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S56789: O
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S56789: C:?@50 :6
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789: P;l90 :?2 PTS
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1pto
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;?:9:@?8
2 pts
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CRITERIOSDIAGNÓSTICOS
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CASO ÍNDICE ESPOR2DICO ESCENARIOS
!.-EL / A01 SMF
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(.-A0 / FBN!1SMF
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%.-A0 / 4 PTS1SMF
SCORE
SISTÉMICO4 PTS /
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#A0
.-EL/FBN! # A01SMF
+
P)
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P)
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FENOTIPOS
ASOCIADOS
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FACTOR DE RIESGO
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RIESGO
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DEFECTO B2SICO• EN EL TC
• PROPORCIONASUJECCIÓN PARA LADEPOSICIÓN DEELASTINA
• #ELASTICIDAD
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ETIOLOGIA
• AUTOSÓMICADOMINANTE
• MUTACIÓN EN ELGEN FBN!#FIBRILINA!" !'=(!.!
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RIESGO DE
RECURRENCIA• MUTACION DE
NOVO
NCIÓN
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• MANEJOOFTALMOLÓGICO
• C0??8
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ENCIÓNNDARIA
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-FUNDACIÓN MARFAN
“CONOCEMOS LOS SIGNOS" GANEMOS LALUCHA
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GRACIAS POR SUATENCIÓN!!
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BIBLIOGRAFIA• V5
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N8 7]
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SÍNDROME DESTICKLERGENÉTICA MÉDICA
DRA. SYLVIA ELENA TOTSUKA SUTTO
HUMBERTO J. J. LÓPEZ ZEPEDA
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SINÓNIMOS
-“A?7?0-0 7:l90 :7 :-“S @?098 @8 M:?6 :ll S75
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G; :? B. S75
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SÍNDROME DE
STICKLER• E 8?98@:@ 8 >75
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• I
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• & 8 86# ( 75 06.
• C0lQ 8 0 ll# H;90? 7?80"
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T5 06 @8 S @?098 @8675
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Tipo Colágeno en cromos#mico
l 2 COL2A1 12q 13.11-q13.2
ll 11 COL11A1 1p21.3
lll 11 COL11A2 6p21.3
l$ 9(a1) COL9A1 6q13
$ 9(a2) COL9A2 1p33-p32
$l 9(a3) COL9A3 20q13.3
S @?098 @8 675
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• M;7:
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•
M;7:
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• M;7:
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S @?098 @8 675
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S @?098 @8675
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• `A?7?00 7:l90 :75: 8?8@57:?5: ?0 ?865 :#
• R8 ?868 7: 8l 'b @8 l06 75 06 *l" ll"lll" lV
• M;7:
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•
C:?:
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O
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;675
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;675
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O?0 :
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O?0 :
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A;@575 :6
• H5 0:
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Sistema Cardiovascular
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FRECUENCIA DEMANIFESTACIONESCLÍNICAS
6& :;< T&C:% < !:T
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6:CR% &T:& 84& %6&!:& >< T&!<;&C:< !& & 849&?:T= 6&R;& %:><%@% R%6: < T<
=< T< & &! >< R:6:>%&RTR% &TA&
R< <
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%R>=CT:$& 70C&!C:;:C&C: 9%D >
&!&>&R 9< >:>% 84&RT:C=!&C:% < R%6: < T<
!&T: % >:!:&$ATR%
%R>< R
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C?578?506@5: 675
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• Al 68? 8l 9Q6 ?8
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PREVENCIÓN
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PREVENCIÓNSECUNDARIA• E :98 : ;:l 0? 86 8
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BIBLIOGRAFIA• T076;\:" S.*(&&, T57;l0 @8 l: 78656. N09 ?8 @8 l: 5 6757;
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