The Turkish Journal of Pediatrics 2016 , Vol 58 , Num 4
Two newborn babies with generalized arterial calcification of infancy, two new mutations
Hacer Yapıcıoğlu-Yıldızdaş 1 ,Nazan Özbarlas 2 ,Sevcan Erdem 2 ,Mehmet Bertan Yılmaz 3 ,Ferda Özlü 1 ,Selim Büyükkurt 4 ,Süreyya Soyupak 5 ,Utku Güllü 2 ,Kadri Karaer 6
1 Division of Neonatology, Çukurova University, Faculty of Medicine, Adana, Turkey
2 Pediatric Cardiology, Department of Pediatrics, Çukurova University, Faculty of Medicine, Adana, Turkey
3 Departments of Medical Biology, Çukurova University, Faculty of Medicine, Adana, Turkey
4 Departments of Gynecology and Obstetrics, Çukurova University, Faculty of Medicine, Adana, Turkey
5 Departments of Radiology, Çukurova University, Faculty of Medicine, Adana, Turkey
6 Çukurova University, Faculty of Medicine, Adana; Intergen Laboratory, Ankara, Turkey
DOI : 10.24953/turkjped.2016.04.013 Idiopathic generalized arterial calcification of infancy-1 (GACI-1) is a rare and potentially lethal disease characterized by diffuse calcification of large and medium-sized arteries such as aorta, renal, pulmonary, cerebral and mesenteric arteries. Here we report two new mutations in two newborn babies with GACI-1 treated with bisphosphonates, and their progress in the first year of life. Keywords : idiopathic generalized arterial calcification, newborn
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