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A case with CHARGE syndrome with antenatal diagnosis of cardiopathy and right renal agenesis [Behcet Uz Cocuk Hast Derg]
Behcet Uz Cocuk Hast Derg. 2013; 3(3): 211-214 | DOI: 10.5222/buchd.2013.211  

A case with CHARGE syndrome with antenatal diagnosis of cardiopathy and right renal agenesis

Sema Tanrıverdi1, Özge Altun Köroğlu1, Özgür Çoğulu2, Mehmet Yalaz1, Ferda Özkınay2, Nilgün Kültürsay1
1Ege University, Faculty Of Medicine, Department Of Pediatrics, Division Of Neonatology, Izmir
2Ege University, Faculty Of Medicine, Department Of Pediatrics, Division Of Genetic And Teratology, Izmir

CHARGE syndrome is a syndrome with coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia. Congenital heart defects occur in 75-80 % of patients. Tetralogy of Fallot is the commonest heart defect.
We report a 15 day old newborn antenatally diagnosed and referred to our hospital for cardiopathy but postnatally presented with bilateral iris and choroid coloboma, left microphthalmos, micropenis, cryptorchidism, right renal agenesis, left vesicoureteral reflux and tetralogy of Fallot and diagnosed as CHARGE syndrome.

Keywords: Tetralogy of Fallot, coloboma, newborn, CHARGE syndrome


Antenatal kardiyopati ve sağ renal agenezi tanılı CHARGE sendromu olgusu

Sema Tanrıverdi1, Özge Altun Köroğlu1, Özgür Çoğulu2, Mehmet Yalaz1, Ferda Özkınay2, Nilgün Kültürsay1
1Ege Üniversitesi Tıp Fakültesi Çocuk Sağlığı Ve Hastalıkları Ana Bilim Dalı, Neonatoloji Bilim Dalı, İzmir
2Ege Üniversitesi Tıp Fakültesi Çocuk Sağlığı Ve Hastalıkları Ana Bilim Dalı, Genetik Ve Teratoloji Bilim Dalı, İzmir

CHARGE sendromu kolobom, kalp defekti, koanal atrezi, büyüme ve gelişme geriliği, genital hipoplazi, kulak anomalisi veya sağırlık gibi anomalilerin eşlik ettiği bir sendromdur. Konjenital kalp defektleri %75-80 oranında görülmektedir ve en sık görülen Fallot Tetralojisidir. Prenatal dönemde kardiyopati saptanarak hastanemize refere edilen ve postnatal dönemde Fallot Tetralojisine eşlik eden bilateral koroid ve iris kolobomu, sol mikroftalmi, kulak anomalisi, mikropenis, inmemiş testis, sağ renal agenezi, sol vezikoüretral reflü bulgularıyla CHARGE sendromu tanısı alan 15 günlük yenidoğan bir olgu sunulmuştur.

Anahtar Kelimeler: Fallot tetralojisi, kolobom, yenidoğan, CHARGE sendromu


Sema Tanrıverdi, Özge Altun Köroğlu, Özgür Çoğulu, Mehmet Yalaz, Ferda Özkınay, Nilgün Kültürsay. A case with CHARGE syndrome with antenatal diagnosis of cardiopathy and right renal agenesis. Behcet Uz Cocuk Hast Derg. 2013; 3(3): 211-214

Corresponding Author: Sema Tanrıverdi, Türkiye


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