Article
Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC).
American journal of medical genetics. Part A - 30 Aug 2003
Bergmann Carsten, Zerres Klaus, Peschgens Thomas, Senderek Jan, Hörnchen Helmut, Rudnik-Schöneborn Sabine
Abstract excerpt
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...
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