期刊
EUROPEAN JOURNAL OF PEDIATRICS
卷 167, 期 12, 页码 1399-1407出版社
SPRINGER
DOI: 10.1007/s00431-008-0683-4
关键词
Broad ribs; Hypoplastic pubic rami; Phalangeal hypoplasia; Schinzel-Giedion syndrome; Synchondrosis
类别
资金
- Children's Medical and Research Foundation at Our Lady's Hospital
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 Moreover, the clinical data, including previously unpublished photographs, which we detail from our patients will assist in enhanced diagnosis in the future.
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