Axial mesodermal dysplasia sequence: autopsy findings

Clin Dysmorphol. 2004 Jan;13(1):21-4. doi: 10.1097/00019605-200401000-00005.

Abstract

We describe an infant with the phenotype of the "axial mesodermal dysplasia spectrum" who had the oculo-auriculo-vertebral sequence and caudal dysgenesis. Postmortem studies identified anomalies of the middle ear ossicles, and muscles, in association with microtia and atresia of the external auditory canals, but no cerebral abnormalities.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple*
  • Adult
  • Autopsy*
  • Bone Diseases, Developmental / pathology
  • Bone and Bones / abnormalities
  • Ear Canal / abnormalities
  • Facial Asymmetry / pathology
  • Female
  • Humans
  • Mesoderm / pathology*
  • Phenotype
  • Pregnancy