Atypical acrofacial dysostosis syndrome

Am J Med Genet. 1994 May 15;51(1):32-4. doi: 10.1002/ajmg.1320510108.

Abstract

We describe a male fetus with a combination of defects, including severe mandibulofacial dysostosis, holoprosencephaly, upper limb deficiency, and microgastria. These abnormalities indicate a severe defect of gastrulation/blastogenesis predominantly affecting cephalad structures. This combination of anomalies has to our knowledge not previously been described. We propose that the anomaly pattern represents either a blastogenesis-related association, or a microgastria-limb deficiency polytopic field defect.

MeSH terms

  • Abnormalities, Multiple*
  • Craniofacial Dysostosis*
  • Ectromelia*
  • Fetus / abnormalities
  • Holoprosencephaly*
  • Humans
  • Male
  • Stomach / abnormalities
  • Syndrome