Antley-Bixler syndrome: case report and review of the literature

Clin Dysmorphol. 1997 Jan;6(1):61-8.


The purpose of this report is to describe a patient with a pattern of malformations very similar to those described by Antley and Bixler. They include craniosynostosis, midface hypoplasia with proptosis, ear anomalies, choanal stenosis, long tapered fingers with a bulbous tip, elbow joint contracture due to radio-ulnar synostosis and talipes equinovarus. Necropsy revealed cardiac and renal malformations. The infant died a few days after birth, of respiratory failure. Unlike previously described cases the elbow joint contracture was due to radio-ulnar synostosis rather than radio-humeral synostosis, she did not have long bone fractures and the femora were not markedly bowed. Since the first report in 1975, at least 23 cases have been reported.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Contracture / complications
  • Craniosynostoses / complications
  • Female
  • Hand Deformities, Congenital / complications
  • Humans
  • Infant, Newborn
  • Radiography
  • Skull / abnormalities
  • Skull / diagnostic imaging
  • Syndrome