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Embryology of familial (non-syndromic) brachydactyly of the hand

Journal of Hand Surgery (European Volume): Journal of the British Society for Surgery of the Hand & Official Journal of the Federation of European Societies for Surgery of the Hand

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Abstract

Isolated familial non-syndromic brachydactyly is interesting from the embryological point of view because the phenotypes of isolated brachydactyly are frequently overlapping, yet they are caused by different gene mutations and the ring finger is frequently relatively preserved. We review the embryology of isolated familial brachydactyly with special attention to these two features.