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CASO CLINICO

CASO CLINICO 7

QuestionAnswer
CASO CLINIO 7 MASCULINO DE 13 AÑOS QUE ES TRAIDO POR SU MADRE QUIEN REFIERE QUE ESTE HA PRESENTADO PROBLEMAS DE VISION DESDE HACE 2 SEMANAS, MOTIVO POR EL CUAL LO REFIRIERON A UNA OPTICA DONDE LE HICIERON UN EXAMEN DE LA VISTA Y LE INDICARON EL USO DE LENTES, SIN EMABR
EXPLORACION FISICA SE APRECIA AL PTE CON UNA DISMINUCION DE LA RELACION DE SEGMENTOS, PRESENCIA DE PECTUS EXCAVATUM, DEDOS DE MANOS Y PIES ALARGADOS, SE PROCEDE A LA EXPLORACION DE OJOS.
¿CUAL ES EL DIAGNOSTICO MAS PROBABLE PARA ESTE PACIENTE? SX DE MARFAN
¿QUE TIPO DE HERENCIA PRESENTA ESTA PATOLOGIA? HERENCIA AUTOSOMICA DOMINANTE
¿CUAL ES LA ANOMALIA GENETICA ASOCIADA? MUTACION DEL GEN FBN1
¿EN QUE CROMOSOMA SE ENCUENTRA EL GEN AFECTADO? 15q21.1
¿CUALES SON LOS TRES SISTEMAS AFEECTADOS FUNDAMENTALMENTE EN ESTA CONDICION? CARDIACO, OFTALMOLLOGICO Y ESQUELETICO
¿CUAL DE LOS SIG ENUNCIADOS EXPLICA MEJOR LA CAUSA DE LA ALTERACION OCULAR QUE PRESENTA EL PACIENTE? ANOMALIA DEL LIGAMENTO SUSPENSORIO DEL CRISTALINO
¿QUE NOMBRE RECIBEN LOS CRITERIOS PARA ESTABLECER EL DIAGNOSTICO DE ESTA PATOLOGIA? GHENT
EN ESTA PATOLOGIA DE FORMA CARACTERISTICA USTED ESPERARIA ENCONTRAR LOS SIGNOS DE STEINBERG Y DE WALKER- MURDOCH ¿EN QUECONSISTE ESTE ULTIMO? CUANDO LA PUNTA DEL PULGAR CUBRE TODA LA UÑA DEL QUINTO DEDO CUANDO SE ENVUELVE ALREDEDOR DE LA MUÑECA CONTRALATERAL.
¿CUAL ES LA PRINCIPAL CAUSA DE MORBILIDAD Y MORTALIDAD EN ESTA ENFERMEDAD? AFECTACION AORTICA
Created by: GACF
 

 



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