Chondrodysplasia punctata with multiple congenital anomalies: A new syndrome?

Academic Article


  • 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.
  • Digital Object Identifier (doi)

    Author List

  • Mortier GR; Messiaen LM; Espeel M; Smets KJ; Vanzieleghem BD; Roels F; De Paepe AM
  • Start Page

  • 790
  • End Page

  • 793
  • Volume

  • 28
  • Issue

  • 10