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

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TANRIVERDİ S., ALTUN KÖROĞLU Ö., ÇOĞULU M. Ö., YALAZ M., Ozkinay F., KÜLTÜRSAY N.

IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI, sa.3, ss.211-214, 2013 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Basım Tarihi: 2013
  • Doi Numarası: 10.5222/buchd.2013.211
  • Dergi Adı: IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.211-214
  • Manisa Celal Bayar Üniversitesi Adresli: Hayır

Özet

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.