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Clinical and radiological findings in Schinzel-Giedion syndrome

Lookup NU author(s): Aisling Stewart

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Abstract

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 Moreover, the clinical data, including previously unpublished photographs, which we detail from our patients will assist in enhanced diagnosis in the future. © 2008 Springer-Verlag.

Publication metadata

Author(s): AL-Mudaffer M, Oley C, Price S, Hayes I, Stewart A, Hall CM, Reardon W

Publication type: Article

Publication status: Published

Journal: European Journal of Pediatrics

Year: 2008

Volume: 167

Issue: 12

Pages: 1399-1407

ISSN (print): 0340-6199

ISSN (electronic): 1432-1076

Publisher: Springer

URL: http://dx.doi.org/10.1007/s00431-008-0683-4

DOI: 10.1007/s00431-008-0683-4

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