Apert syndrome: case report

被引:0
作者
Karaman, Ali [1 ]
Kahveci, Hasan [2 ]
机构
[1] Erzurum Nenehatun Kadin Dogum Hastanesi, Genet Unitesi, Erzurum, Turkey
[2] Erzurum Nenehatun Kadin Dogum Hastanesi, Yenidogan Yogun Bakim Unitesi, Erzurum, Turkey
关键词
Apert syndrome; cranialsinositosis; syndactily;
D O I
10.5350/BTDMJB201309209
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Apert syndrome is a rare autosomal dominant genetic disorder characterized by irregular craniosynostosis, symmetric syndactylia of hands and feet, mid-line hypoplasia, and coronal synostosis, hypertelorism, anomalies of central nervous system, heart and kidneys. In this paper, we reported a 10 day-old new born who was hospitalized because of respiratory distress. He was diagnosed as Apert syndrome with the typical features of coronal synostosis, hyperteleorism, symmetric syndactyly of hands and feet and corpus callosum hypoplasia.
引用
收藏
页码:81 / 84
页数:4
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