Patient with CHARGE syndrome

被引：0
|
作者：
El Yajouri, Abdelhakim [1 ]
Mahraoui, Chafiq [1 ]
机构：
[1] Mohammed V Univ Rabat, Rabat Children Hosp, Pneumoallergol Unit, Fac Med, Rabat, Morocco
来源：
PAN AFRICAN MEDICAL JOURNAL | 2018年 / 31卷
关键词：
CHARGE syndrome; health care consumption; long-term conditions;
D O I：
10.11604/pamj.2018.31.51.7029
中图分类号：
R1 [预防医学、卫生学];
学科分类号：
1004 ; 120402 ;
摘要：
A two-years-old boy presenting multiple anomaly syndrome (congenital heart disease, Tetralogy of Fallot, bilateral ear anomalies, and micropenis) was consulted in the Pneumo-allergology unit of Rabat children hospital in Morocco. It was ruled out the possibility of multiple deformities caused by genomic imbalances. The patient was then clinically considered to have CHARGE syndrome, an autosomal dominant multi-system disorder involving defects in multiple organs.
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页数：5
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