| Cervical diastematomyelia in cervico-oculo-acoustic (Wildervanck) syndrome: MRI findings. | |
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MedLine Citation:
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PMID: 12002143 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Sevim Balci; Kader Karli Oguz; M Murat Firat; Koray Boduroglu |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 11 ISSN: 0962-8827 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 2002 Apr |
Date Detail:
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Created Date: 2002-05-10 Completed Date: 2003-03-03 Revised Date: 2008-11-21 |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: England |
Other Details:
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Languages: eng Pagination: 125-8 Citation Subset: IM |
Affiliation:
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Department of Clinical Genetics, Hacettepe University, Sihhiye, Ankara, Turkey. karlioguz@yahoo.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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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 |
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