Vieira Marta W, Lopes Vera L G S, Teruya Hiromi, Guimarães-Lamonato Leonardo, Oliveira Lucila C L, Costa Clóvis Duarte
Disciplina de Hereditariedade Médica, Pontifícia Universidade Católica de São Paulo, Sorocaba, SP.
J Pediatr (Rio J). 2002 Sep-Oct;78(5):433-6.
To promote a clinical entity that could be part of differential diagnosis of most disorders that affect the pediatric age group.
We describe a Brazilian girl affected by Johanson-Blizzard syndrome and review the literature.
Johanson-Blizzard syndrome is an autosomal recessive condition characterized by hypoplastic alae nasi, scalp defect, deafness and pancreatic insufficiency with malabsorption. Looking at the major signs, this disorder should be considered as differential diagnosis in several pediatric diseases.
推广一种可作为大多数影响儿童年龄组疾病鉴别诊断一部分的临床实体。
我们描述了一名患有约翰森-布莱兹德综合征的巴西女孩，并对相关文献进行了综述。
约翰森-布莱兹德综合征是一种常染色体隐性疾病，其特征为鼻翼发育不全、头皮缺损、耳聋以及伴有吸收不良的胰腺功能不全。鉴于这些主要症状，该疾病应被视为多种儿科疾病鉴别诊断时需考虑的对象。
