![](/images/graphics-bg.png)
Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia
Joint Authors
Atan, Denize
Williams, Cathy
Gill, Harjinder
Ellis, Matthew
Muthusamy, Brinda
Source
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-01-26
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
We describe two sisters who presented in early childhood with motor delay and unusual eye movements.
Both demonstrated hypotonia and poor visual attention.
The older girl at 14 weeks of age showed fine pendular horizontal nystagmus more pronounced on lateral gaze, but despite investigation with cranial MRI no diagnosis was reached.
The birth of her younger sister four years later with a similar presentation triggered review of the sisters’ visual behaviour.
Each had developed an unusual but similar form of oculomotor apraxia (OMA) with head thrusts to maintain fixation rather than to change fixation.
MRI of the older sibling demonstrated the characteristic “molar tooth sign” (MTS) of Joubert syndrome which was subsequently confirmed on MRI in the younger sibling.
We discuss the genetically heterogeneous ciliopathies now grouped as Joubert syndrome and Related Disorders.
Clinicians need to consider this group of disorders when faced with unusual eye movements in the developmentally delayed child.
American Psychological Association (APA)
Gill, Harjinder& Muthusamy, Brinda& Atan, Denize& Williams, Cathy& Ellis, Matthew. 2012. Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia. Case Reports in Pediatrics،Vol. 2011, no. 2011, pp.1-5.
https://search.emarefa.net/detail/BIM-458475
Modern Language Association (MLA)
Gill, Harjinder…[et al.]. Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia. Case Reports in Pediatrics No. 2011 (2011), pp.1-5.
https://search.emarefa.net/detail/BIM-458475
American Medical Association (AMA)
Gill, Harjinder& Muthusamy, Brinda& Atan, Denize& Williams, Cathy& Ellis, Matthew. Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia. Case Reports in Pediatrics. 2012. Vol. 2011, no. 2011, pp.1-5.
https://search.emarefa.net/detail/BIM-458475
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-458475