European Journal of Pediatrics

, Volume 167, Issue 12, pp 1399–1407

Clinical and radiological findings in Schinzel–Giedion syndrome

  • Mudaffer AL-Mudaffer
  • Christine Oley
  • Sue Price
  • Ian Hayes
  • Alison Stewart
  • Christine M. Hall
  • William Reardon
Original Paper

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 Moreover, the clinical data, including previously unpublished photographs, which we detail from our patients will assist in enhanced diagnosis in the future.

Keywords

Broad ribs Hypoplastic pubic rami Phalangeal hypoplasia Schinzel–Giedion syndrome Synchondrosis 

Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Mudaffer AL-Mudaffer
    • 1
  • Christine Oley
    • 2
  • Sue Price
    • 3
  • Ian Hayes
    • 4
  • Alison Stewart
    • 5
  • Christine M. Hall
    • 6
  • William Reardon
    • 1
  1. 1.Our Lady’s Hospital for Sick ChildrenDublin 12Ireland
  2. 2.Clinical Genetics UnitBirmingham Women’s HospitalEdgbaston, BirminghamUK
  3. 3.Northampton General HospitalNorthantsUK
  4. 4.Hospital for Sick Children, Toronto and Northern Regional Genetics CentreAuckland HospitalAucklandNew Zealand
  5. 5.Institute of Human Genetics, International Centre for LifeNewcastle Upon TyneUK
  6. 6.Dept of RadiologyGreat Ormond Street Hospital for ChildrenLondonUK

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