Rare association of Hirschsprung’s disease and Joubert syndrome

被引：0
作者：
Hamit Ozyurek
Ozlem Eroglu Kayacik
Olcay Gungor
Filiz Karagoz
机构：
[1] Ondokuz Mayis University,Pediatric Neurology Unit, Department of Pediatrics, Faculty of Medicine
[2] Ondokuz Mayis University,Department of Pediatrics, Faculty of Medicine
[3] Ondokuz Mayis University,Department of Pathology, Faculty of Medicine
来源：
European Journal of Pediatrics | 2008年 / 167卷
关键词：
Joubert syndrome; Hirschsprung’s disease; Neurocristopathy;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
We present the case of an 18-month-old boy with Hirschsprung’s disease who had psychomotor retardation. His clinical and radiological findings were consistent with Joubert syndrome. The patient was the second case to show the association between Hirschsprung’s disease and Joubert syndrome in the literature. As in our case, association of these entities by chance seems to be unlikely. Genetic analysis of new Joubert syndrome and Hirschsprung’s disease patients may identify the candidate genes.
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页码：475 / 477
页数：2
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