Document Detail


Cervical diastematomyelia in cervico-oculo-acoustic (Wildervanck) syndrome: MRI findings.
MedLine Citation:
PMID:  12002143     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Cervico-oculo-acoustic (COA) or Wildervanck syndrome is characterized by the triad of Klippel-Feil anomaly, bilateral abducens palsy with retracted bulbs (Duane 'syndrome') and hearing loss. The clinical findings of this syndrome have been well documented. A few case reports with MRI findings have appeared in the literature showing brainstem and cerebellar hypoplasia and vertebral segmentation anomalies. Our case is unique in that diastematomyelia of the lower medulla and cervical cord was accompanied by vermian hypoplasia, tonsillar herniation and resulting triventricular hydrocephalus in a child with Wildervanck syndrome. This case is presented with MR images. Children with Wildervanck syndrome should be investigated for craniospinal abnormalities with MR imaging.
Authors:
Sevim Balci; Kader Karli Oguz; M Murat Firat; Koray Boduroglu
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  11     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2002 Apr 
Date Detail:
Created Date:  2002-05-10     Completed Date:  2003-03-03     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  125-8     Citation Subset:  IM    
Affiliation:
Department of Clinical Genetics, Hacettepe University, Sihhiye, Ankara, Turkey. karlioguz@yahoo.com
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MeSH Terms
Descriptor/Qualifier:
Child, Preschool
Female
Humans
Hydrocephalus / pathology
Infant
Magnetic Resonance Imaging*
Medulla Oblongata / abnormalities
Neck / pathology
Neural Tube Defects / pathology*
Palatine Tonsil / abnormalities
Skull / abnormalities
Spinal Cord / abnormalities*
Spine / abnormalities

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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