Related Experiment Video
Updated: Aug 12, 2026
Quantification of Orofacial Phenotypes in Xenopus
Published on: November 6, 2014
Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal
Carsten Bergmann1, Klaus Zerres, Thomas Peschgens
1Institute of Human Genetics, Aachen University of Technology, Germany. cbergmann@ukaachen.de
Abstract:
We describe a male infant born to consanguineous healthy parents with multiple congenital anomalies of the skeleton and internal organs. His phenotype displays an overlap between VACTERL and hemifacial microsomia (oculo-auriculo-vertebral spectrum/OAV). In addition, striking asymmetry of the malformations further supports the classification as part of the "axial mesodermal dysplasia complex" (AMDC) which is supposed to arise from disturbed mesodermal cell migration during early blastogenesis. The present case was instructive to review the continuous spectrum of AMDC related anomalies.
