| Clinical and radiological findings in Schinzel-Giedion syndrome. | |
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MedLine Citation:
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PMID: 18461363 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The absence of a definitive genetic test for the autosomal recessive condition Schinzel-Giedion syndrome is a significant handicap to the recognition of this disorder. Radiological features have been an important aspect of many of the published cases. In a series of six cases, we now establish a consistency among many of the radiological features in affected cases which will be an important diagnostic aid in identifying future cases. This is confirmed by reference to an extensive review of previously published instances of the syndrome. Moreover, the clinical data, including previously unpublished photographs, which we detail from our patients will assist in enhanced diagnosis in the future. |
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Authors:
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Mudaffer Al-Mudaffer; Christine Oley; Sue Price; Ian Hayes; Alison Stewart; Christine M Hall; William Reardon |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2008-05-07 |
Journal Detail:
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Title: European journal of pediatrics Volume: 167 ISSN: 1432-1076 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 2008 Dec |
Date Detail:
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Created Date: 2008-10-20 Completed Date: 2009-02-05 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: Germany |
Other Details:
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Languages: eng Pagination: 1399-407 Citation Subset: IM |
Affiliation:
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Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis,
radiography* Craniofacial Abnormalities / complications, diagnosis, radiography* Female Fingers / abnormalities, radiography Humans Hypertrichosis / etiology Infant Infant, Newborn Limb Deformities, Congenital / etiology, radiography Male Nails, Malformed / etiology Pelvic Bones / abnormalities, radiography Syndrome |
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