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

Genet Couns. 1995;6(3):241-6.

Abstract

A female newborn presenting a malformative syndrome which groups trapezoidocephaly, midfacial hypoplasia, radiohumeral synostosis, multiple joint contractures and femoral bowing is described as being affected of an Antley-Bixler syndrome. We compare this case with the seventeen others cases reported.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Anus, Imperforate / genetics
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Contracture / genetics*
  • Craniosynostoses / genetics
  • Facial Bones / abnormalities*
  • Female
  • Femur / abnormalities
  • Genes, Recessive / genetics*
  • Humans
  • Humerus / abnormalities*
  • Infant, Newborn
  • Radius / abnormalities*
  • Skull / abnormalities*
  • Syndrome
  • Synostosis / genetics*