Cerebro-facio-thoracic dysplasia: expanding the phenotype

Cilliers D., ALANAY Y., BODUROĞLU O. K., Utine E., Tuncbilek E., Clayton-Smith J.

CLINICAL DYSMORPHOLOGY, vol.16, no.2, pp.121-125, 2007 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 16 Issue: 2
  • Publication Date: 2007
  • Doi Number: 10.1097/mcd.0b013e328012e292
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.121-125
  • Keywords: cerebro-facio-thoracic dysplasia, corpus callosum hypoplasia, optic nerve coloboma, CEREBROFACIOTHORACIC DYSPLASIA
  • Acibadem Mehmet Ali Aydinlar University Affiliated: No


We report a further two patients with cerebro-facio-thoracic dysplasia, a rare autosomal recessive condition with thoracic costovertebral dysplasia, developmental delay and characteristic facial features. One of our patients has the additional features of large, bilateral colobomas of the optic nerve, ptosis, small conical teeth and severe left-sided talipes. He also has hypermobile joints, especially in his hands and anterior subluxation of the shoulders. The second patient has hypodensity of the grey matter on magnetic resonance imaging, which is the second report of this finding in cerebro-facio-thoracic dysplasia. In addition, he has hypoplasia of the corpus callosum. These cases illustrate the expanding phenotype of this condition, and support the hypothesis that this is an autosomal recessive condition.