Johanson-Blizzard Syndrome with Diamond-Blackfan Anemia

被引：0

作者：

Saeed, Muhammad ^{[1
]}

Rana, Muhammad Nasir ^{[2
]}

Ahmad, Tahir Masood ^{[3
]}

机构：

[1] Childrens Hosp, Dept Neurol, Al Taif, Saudi Arabia

[2] Inst Child Hlth, Dept Paeds Emergency, Lahore, Pakistan

[3] Childrens Hosp, Lahore, Pakistan

来源：

JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN | 2010年 / 20卷 / 09期

关键词：

Johanson-Blizzard syndrome; Pancreatic insufficiency; Ectodermal dysplastic disorder; Diamond-Blackfan anemia; ALAE NASI; APLASIA; BIOLOGY;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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, cafe-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.

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页码：627 / 628

页数：2

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