| Cervico-oculo-acusticus (Wildervanck's) syndrome: a clinical variant of Klippel-Feil sequence? | |
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MedLine Citation:
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PMID: 2355722 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A 7-year-old female child with phenotype of Cervico-Oculo-Acousticus (Wildervanck's) syndrome is presented. In addition to fusion of multiple cervical vertebrae with short neck, abducens nerve palsy and deafness, the child showed severe growth and bone delay, renal abnormalities and slight mental retardation. The presence of such malformations seems to suggest that Wildervanck's syndrome is a clinical variant of Klippel-Feil sequence. Both conditions usually have sporadic occurrence with female prevalence, more consistent for cervico-oculo-acousticus syndrome. The possibility of dominant inheritance has been postulated for both, autosomal for Klippel-Feil, autosomal or X-linked with lethality in hemizygous for Wildervank's one. An environmental etiology, due to a vascular disruption sequence during embryonic development, has been noted in Klippel-Feil, as in Moebius and Poland sequences. A combination of defects (Klippel-Feil and Moebius) could induce the more complex phenotype observed in Wildervanck's syndrome. |
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Authors:
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G Corsello; A Carcione; L Castro; L Giuffrè |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Klinische Pädiatrie Volume: 202 ISSN: 0300-8630 ISO Abbreviation: Klin Padiatr Publication Date: 1990 May-Jun |
Date Detail:
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Created Date: 1990-07-26 Completed Date: 1990-07-26 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0326144 Medline TA: Klin Padiatr Country: GERMANY, WEST |
Other Details:
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Languages: eng Pagination: 176-9 Citation Subset: IM |
Affiliation:
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Istituto Materno-Infantile Università di Palermo. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple*
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genetics Child Deafness / complications*, genetics Female Genes, Dominant Humans Klippel-Feil Syndrome / complications*, genetics Ophthalmoplegia / complications, genetics Phenotype Syndrome |
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