Joubert syndrome (and related disorders) (OMIM 213300)

被引：0
作者：
Melissa A Parisi
Dan Doherty
Phillip F Chance
Ian A Glass
机构：
[1] University of Washington School of Medicine,Division of Genetics and Developmental Medicine, Department of Pediatrics
来源：
European Journal of Human Genetics | 2007年 / 15卷
关键词：
cerebellar vermis hypoplasia; Joubert syndrome; molar tooth sign; cerebello-oculo-renal syndrome; oculomotor apraxia; nephronophthisis;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Joubert syndrome (JS) and related disorders are characterized by the ‘molar tooth sign’ (cerebellar vermis hypoplasia and brainstem anomalies) on MRI, hypotonia, developmental delay, ataxia, irregular breathing pattern and abnormal eye movements. Combinations of additional features such as polydactyly, ocular coloboma, retinal dystrophy, renal disease, hepatic fibrosis, encephalocele, and other brain malformations define clinical sub-types. Recent identification of the NPHP1, AHI1, and CEP290 genes has started to reveal the molecular basis of JS, which may implicate the primary cilium in these disorders. Additional genes remain to be identified.
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页码：511 / 521
页数：10
相关论文
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