Literature DB >> 15988832

A girl with abnormal head and eye movements: Joubert syndrome (2005:3b).

S K Verma1, B S Shetty, L Kanth, T Kumar.   

Abstract

We describe a mentally retarded patient with developmental delay, abnormal head and eye movements with suspected blindness and episodes of abnormal breathing. Subsequent CT and MRI were performed to reach to the final diagnosis. The clinical history and the imaging findings were classical for Joubert syndrome.

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Year:  2005        PMID: 15988832     DOI: 10.1007/s00330-004-2568-x

Source DB:  PubMed          Journal:  Eur Radiol        ISSN: 0938-7994            Impact factor:   5.315


  1 in total

1.  Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis.

Authors:  Hannah M Tully; Jennifer C Dempsey; Gisele E Ishak; Margaret P Adam; Jonathan W Mink; William B Dobyns; Sidney M Gospe; Avery Weiss; James O Phillips; Dan Doherty
Journal:  Mov Disord       Date:  2013-09-18       Impact factor: 10.338

  1 in total

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