Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)
✍ Scribed by Carsten Bergmann; Klaus Zerres; Thomas Peschgens; Jan Senderek; Helmut Hörnchen; Sabine Rudnik-Schöneborn
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 172 KB
- Volume
- 121A
- Category
- Article
- ISSN
- 1552-4825
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✦ Synopsis
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. © 2003 Wiley‐Liss, Inc.