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A new genetic disorder: Autosomal-dominant multiple benign ring-shaped skin creases

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Abstract

We describe two families with autosomal-dominant transmission of benign ring-shaped skin creases: a father and his son with cleft palate and localized neuroblastoma in one family and a father and his two daughters-one with median cleft palate-in the second family, who showed circular skin creases on both arms and fingers, which almost disappeared in later life. Multiple benign deep ring-shaped skin alterations in a newborn of a third family are suggestive for a new dominant mutation. Our new observations should not be confused with amniotic ring constrictions.

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Kunze, J., Riehm, H. A new genetic disorder: Autosomal-dominant multiple benign ring-shaped skin creases. Eur J Pediatr 138, 301–303 (1982). https://doi.org/10.1007/BF00442501

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  • DOI: https://doi.org/10.1007/BF00442501

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