伴有先天性纯红细胞再生障碍性贫血的乔汉森－布里扎德综合征

Johanson-Blizzard syndrome with Diamond-Blackfan anemia.

作者信息

Saeed Muhammad, Rana Muhammad Nasir, Ahmad Tahir Masood

机构信息

Department of Neurology, The Children's Hospital, Al Taif, Kingdom of Saudi Arabia.

出版信息

J Coll Physicians Surg Pak. 2010 Sep;20(9):627-8.

PMID:20810061

Abstract

Johanson Blizzard syndrome (JBS) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, hypothyroidism, deafness, growth retardation, varying degree of mental retardation, alopecia, wide open fontanels, anti-mongoloid slant, café-au-lait spots and absent of permanent teeth. We report a 3 months old male child having Johanson Blizzard syndrome with classical clinical features, pancreatic insufficiency and Diamond-Blackfan anemia.

摘要

约汉森-布莱兹综合征（JBS）是一种罕见的多系统疾病，其特征为先天性鼻翼发育不全或发育不良、外分泌性胰腺功能不全、甲状腺功能减退、耳聋、生长发育迟缓、不同程度的智力迟钝、脱发、囟门大开、反蒙古样斜眼、咖啡牛奶斑以及恒牙缺失。我们报告一例3个月大的男童，患有具有典型临床特征、胰腺功能不全和先天性纯红细胞再生障碍性贫血的约汉森-布莱兹综合征。