Çocuk Sağlığı ve Hastalıkları Dergisi 2016 , Vol 59 , Num 4
Goldenhar syndrome in infant of diabetic mother: a case report
Tuğba Alarcon Martinez *1 ,Şahin Takcı *2 ,Gülen Eda Utine *3 ,Murat Yurdakök *3
1 Hacettepe Üniversitesi Tıp Fakültesi Pediatri Uzmanı, Ankara
2 Hacettepe Üniversitesi Tıp Fakültesi, Pediatri Profesörü, Ankara
3 Gaziosmanpaşa Üniversitesi Tıp Fakültesi Pediatri Doçenti, Tokat
Goldenhar´s syndrome is a rare disease characterized by dermal epibulbar tumors, periauricular appendices, malformation of the ears, and vertebral anomalies. In addition to craniofacial anomalies, patients may present cardiac, genitourinary, skeletal and central nervous system malformations. Multiple genetic and environmental factors play a role in the etiology of the syndrome and maternal diabetes is also thought to be related. Herein, we present an infant of a diabetic mother, getting a diagnosis of Goldenhar syndrome in the newborn period with characteristic clinical and radiological findings. Anahtar Kelimeler : Goldenhar syndrome, craniofacial anomaly, diabetic mother, newborn
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