Abstract
Congenital anomalies of the upper extremity (CAUE) are seen in a number of syndromes, either as an occasional feature or as a major or even presenting feature. In this chapter, only the syndromes in which the CAUE are defining or major features are included. For each of these syndromes, the genetic basis, including specific genes, if known, is included. The syndromes are reviewed by their involvement of the major types of CAUE: polydactyly, syndactyly, brachydactyly, oligodactyly, or reduction defects. In addition, the genetics of isolated brachydactyly and polydactyly is included.
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Burke, L.W. (2021). Genetics of Associated Syndromes. In: Laub Jr., D.R. (eds) Congenital Anomalies of the Upper Extremity. Springer, Cham. https://doi.org/10.1007/978-3-030-64159-7_3
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DOI: https://doi.org/10.1007/978-3-030-64159-7_3
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