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Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)
Author(s) -
Bergmann Carsten,
Zerres Klaus,
Peschgens Thomas,
Senderek Jan,
Hörnchen Helmut,
RudnikSchöneborn Sabine
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20167
Subject(s) - hemifacial microsomia , goldenhar syndrome , dysplasia , anatomy , medicine , craniofacial , pathology , psychiatry
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.