Prenatal Dönemde Tanı Koyulan İzole Yarık El/Ayak Malformasyonu

Abstract

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

Keywords

• yarık el/ayak malformasyonu,Ektrodaktili,prenatal tanı

Prenatal Diagnosis of Isolated Split Hand/Foot Malformation

Abstract

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.

Keywords

• split hand/foot malformation,Ectrodactyly,prenatal diagnosis

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