Johanson-Blizzard syndrome

作     者：Nabeel Almashraki Mukarram Zainuddin Abdulnabee Maja Sukalo Abdullah Alrajoudi Iman Sharafadeen Martin Zenker 

作者机构：Department of PediatricAl-Thawra Teaching Hospital Institute of Human GeneticsUniversity Hospital 

出 版 物：《World Journal of Gastroenterology》 (世界胃肠病学杂志（英文版）)

年 卷 期：2011年第17卷第37期

页      面：4247-4250页

核心收录：

学科分类：1002[医学-临床医学] 100202[医学-儿科学] 10[医学] 

主　　题：Alae nasi aplasia Anemia Cutis aplasia Exocrine pancreatic insufficiency Johanson-Blizzard syndrome 

摘      要：Johanson-Blizzard syndrome(JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency,hypoplastic or aplastic nasal alae,cutis aplasia on the scalp,and other features including developmental delay,failure to thrive,hearing loss,mental retardation,hypothyroidism,dental abnormalities,and anomalies in cardiac and genitourinary *** than 60 cases of this syndrome have been reported to *** describe the case of a male infant with typical symptoms of *** addition,a new clinical feature which has not previously been documented,that is anemia requiring frequent blood transfusions and mild to moderate thrombocytopenia was observed.A molecular study was performed which revealed a novel homozygous UBR1 *** explanations for this new association are discussed.