Familial Joubert syndrome in two siblings

被引：0

作者：

Usman, Muhammad ^{[1
]}

-Ur-Rehman, Imaad ^{[1
]}

Jawad, Rehmani Aniqah ^{[1
]}

Akhtar, Samina ^{[1
]}

Nazir, Rashed ^{[1
]}

Rana, Atif ^{[1
]}

Chaudhry, Mohammad Yousaf ^{[1
]}

机构：

[1] Shifa Int Hosp, Dept Radiol, Islamabad, Pakistan

来源：

RAWAL MEDICAL JOURNAL | 2012年 / 37卷 / 01期

关键词：

Familial Joubert syndrome; molar tooth sign; MRI;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Joubert syndrome is a rare autosomal recessive neurological disorder with episodic hyperpnoea, developmental delay, abnormal eye movements and gait abnormalities. We describe a case of 6 months old baby boy who presented with hyperpnoea and developmental delay. MRI was performed which showed the characteristic molar tooth sign.

引用

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页码：56 / +

页数：6

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