An11yearoldboy,wha

An11-year-oldboy,operatedonpreviouslyforbilateralectopialentis.

Whatisyourdiagnosis?

TheanswerisMarfanSyndrome

Marfansyndrome(MFS)isanautosomaldominantdisorderofconnectivetissueduetofaultyelastinbyamutationinFBN1geneonchromosome15.

Itischaracterizedbymultipleocular(ectopialentis),muskuloskeletal(wristsign),dural(ectasia),andcardiorespiratory(aorticrootdissecting)manifestations.

Diagnosisisbasedonrevisedclinicalcriteria(Ghentnosology).

DuralectasiaisamajorcriteriaandisdiagnosedbypresenceofanteriorsacralmeningoceleorincreasedduralsacdiameteratlevelS1orbelow,as







































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