Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype

J Med Genet. 1991 Oct;28(10):695-700. doi: 10.1136/jmg.28.10.695.


A sibship with postaxial acrofacial dysostosis syndrome (Miller syndrome) is reported. In addition to the characteristic facial and limb defects, previously undescribed anomalies, including midgut malrotation, gastric volvulus, and renal anomalies, are recorded.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Genes, Recessive
  • Humans
  • Infant
  • Male
  • Mandibulofacial Dysostosis / genetics*
  • Phenotype
  • Syndrome