一例提示约汉森-布莱兹综合征的完全性胰腺发育不全病例。
A Case with Complete Pancreatic Aplasia Suggestive of Johanson-Blizzard Syndrome.
作者信息
Jafari Seyed Ali, Moghaddar Roozbeh, Bahadoram Mohammad, Kianifar Hamid Reza, Tosi Mehran Beiraghi
机构信息
Associate Professor, Department of Pediatric Gastroenterology, Mashhad University of Medical Sciences , Mashhad, Iran .
Resident, Department of Pediatrics Hematalogy Oncology, Health Research Institute, Research Centre of Thalassemia and Hemoglobinopathies, Ahvaz Jundishapur University of Medical Sciences , Ahvaz, Iran .
出版信息
J Clin Diagn Res. 2016 Aug;10(8):SD01-3. doi: 10.7860/JCDR/2016/17692.8307. Epub 2016 Aug 1.
Johanson-Blizzard Syndrome (JBS) is a very rare autosomal recessive multisystem disorder. We report the case of a two-month-old male with pancreatic insufficiency and severe phenotypic features. His diagnosis of JBS was established using clinical symptoms and abdominal computed tomography scan that showed pancreas aplasia. According to the best of our knowledge, no case with this syndrome has presented with complete pancreatic aplasia in the literature.
约翰森-布利兹综合征（JBS）是一种非常罕见的常染色体隐性多系统疾病。我们报告了一例两个月大的男性患儿，患有胰腺功能不全且具有严重的表型特征。通过临床症状及腹部计算机断层扫描显示胰腺发育不全，确诊其患有JBS。据我们所知，文献中尚无该综合征患者出现完全性胰腺发育不全的病例。
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