PP68. MOEBIUS SYNDROME WITH UNILATERAL CEREBELLAR HYPOPLASIA
CANDAN ޹, Tatlı B², Kara B², Kayserili H¹ ¹ Department of Medical Genetics; ² Department of Pediatric Neurology, Istanbul Medical Faculty, Istanbul University, TURKEY e-mail: sukrucandan34@mynet.com.tr
*Corresponding Author:
page: 78

Abstract

Moebius syndrome is characterized by sixth and seventh nerve palsy. Involvement of other cranial nerves is also common. Occasionally, cranial nerves V, X, XI and XII are involved, resulting in difficulty of chewing, swallowing, and coughing, often leads to respiratory complications. Other variable features include orofacial dysmorphism and limb malformations. Mental retardation and autism have been reported in some cases. Most cases of Moebius syndrome are sporadic, but familial occurrence has been reported. In 1996, the incidence of Moebius syndrome in Dutch population was estimated to be 0.002%. Approximately one tenth of the patients wi th Moebius syndrome were reported to present Poland anomaly. We here report a 3 year old Turkish girl with Moebius syndrome who also has right cerebellar hemisphere and posterior vermis hypoplasia. Her parents are first cousins. At birth she was noted to have facial asymmetry which is due to right 6 th and 7 th cranial nerve palsy. She had psycohomotor retardation, developed gait ataxia and abnormal EEG pattern. Cytogenetic analysis revealed normal karyotype. Harbord et al. (1989) reported a case of Moebius syndrome with unilateral cerebellar hypoplasia to have right facial weakness, complete paralysis of the right lateral rectus muscle and partial paralysis of the left, and slight ataxia of the right arm. Although the co-occurence of unilateral cerebellar hypoplasia with Moebius syndrome in both cases would be considered as a co-incidence, it would also be speculated that unilateral cerebellar hypoplasia is a rare finding of Moebius syndrome.




Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006