Pediatric Radiology

, Volume 28, Issue 10, pp 790–793 | Cite as

Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?

  • G. R. Mortier
  • Ludwine M. Messiaen
  • Marc Espeel
  • Koen J. Smets
  • Bart D. Vanzieleghem
  • Frank Roels
  • Anne M. De Paepe

Abstract

We report a male neonate with craniofacial dysmorphic features, multiple congenital anomalies and an unusual form of chondrodysplasia punctata. Radiographic examination revealed punctate epiphyses and coronal clefting of the thoracic spine. The hand radiographs showed some similarities to the brachytelephalangic type of chondrodysplasia punctata. However, the disorder did not fit well with any known entity of chondrodysplasia punctata or other condition characterized by punctate epiphyses.

Keywords

Congenital Anomaly Thoracic Spine Radiographic Examination Dysmorphic Feature Unusual Form 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Copyright information

© Springer-Verlag Berlin Heidelberg 1998

Authors and Affiliations

  • G. R. Mortier
    • 1
  • Ludwine M. Messiaen
    • 1
  • Marc Espeel
    • 2
  • Koen J. Smets
    • 3
  • Bart D. Vanzieleghem
    • 4
  • Frank Roels
    • 2
  • Anne M. De Paepe
    • 1
  1. 1.Department of Medical Genetics, University Hospital of Ghent, De Pintelaan 185, B-9000 Ghent, BelgiumBE
  2. 2.Department of Human Anatomy, Embryology and Histology, University of Ghent, Ghent, BelgiumBE
  3. 3.Department of Pediatrics, University Hospital of Ghent, Ghent, BelgiumBE
  4. 4.Department of Radiology, University Hospital of Ghent, Ghent, BelgiumBE

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