Recep HAS, Umut ALTUNOĞLU, Emircan ERTÜRK, Gürcan TÜRKYILMAZ, Atıl YÜKSEL, Tuğba SARAÇ SİVRİKOZ, Şahin AVCI, iBRAHİM KALELİOĞLU

PRENATAL DÖNEMDE TANI KOYULAN İZOLE YARIK EL/ AYAK MALFORMASYONU

Yarık el/ayak malformasyonu (split hand/foot malformation, SHFM) veya ektrodaktili; median apikal ektodermal kabartıaktivitesindeki bozulma nedeniyle el ve ayaklarda oluşan santral ışın defekti ile karakterizedir. Etkilenen ekstremitede medialyarıklar, sindaktili ve falanks, metakarp ve metatarslarda hipoplazi ve/veya aplazi ile kendini gösterir. İzole bir anomaliolabileceği gibi çeşitli anomalilerle birliktelik gösterek bir sendromun parçası olabilir. Bu makalede 27 haftada kliniğimizdetanısını koyduğumuz dört ekstremitede de ektrodaktili saptanan, ek anomali tespit edilmeyen ve kromozomal arrayanalizinde patoloji saptanmayan ancak dört ekstremitede de ciddi derecede malformasyon saptanmış olması nedeniyle tıbbigenetik bilim dalı ile konsülte edilerek ailenin onayı ile gebelik terminasyonu uyguladığımız olgumuzu sunduk. Bu olgunedeniyle fetüsün ultrasonografik muayenesinde ekstremitelerin değerlendirilmesinin önemini ve bir patoloji saptandığındaek anomaliler açısından fetüsün tüm sistemlerinin ayrıntılı muayenesinin yapılmasını ve ailelere danışmanlık verilirkenmultidispliner yaklaşımın öneminin vurgulanmasını amaçladık

PRENATAL DIAGNOSIS OF ISOLATED SPLIT HAND/ FOOT MALFORMATION

Split hand/foot malformation (SHFM) also known ectrodactyly is a rare orthopaedic malformation which is characterised by the deficiency or absence of one or more central digits of the hand or foot. The associated anomalies are median cleft, syndactyly or aplasia/hypoplasia of the phalanges, metacarpals and metatarsals of hands or feet. It can be isolated or accompany a syndrome. İn our case, we introduced prental diagnosis of isolated form of ectrodactyly in both extremities. After genetic counselling we terminated the. In this report, we aimed to explain the importance of multidiciplinary approach to extremity anomalies.

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