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Updated: Jul 10, 2026

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Published on: February 28, 2021
A boy with Poland anomaly and facio-auriculo-vertebral dysplasia
J M Cobben1, A J van Essen, P C McParland
1Department of Medical Genetics, University of Groningen, The Netherlands.
Abstract:
Poland anomaly and facio-auriculo-vertebral dysplasia are considered to be separate entities. We describe a 3-year-old boy with features of both Poland anomaly and facio-auriculo-vertebral dysplasia. This is the first report, to our knowledge, of this combination of birth defects. Possible pathogenetic implications are discussed.
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