Acrofacial dysostosis syndrome type Rodriguez: a new lethal MCA syndrome

Am J Med Genet. 1992 Feb 1;42(3):343-5. doi: 10.1002/ajmg.1320420318.

Abstract

We present a female fetus with the lethal acrofacial dysostosis syndrome recently delineated by Rodriguez et al. [1990]. The present findings confirm that this syndrome constitutes a true MCA syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, the urogenital tract, heart, and lungs.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Dysostoses / genetics*
  • Female
  • Genes, Recessive / genetics
  • Humans
  • Infant, Newborn
  • Syndrome