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01-06-2009

Intussusception in the adult: an unsuspected case of Peutz–Jeghers syndrome with review of the literature

Authors: Jason D. Fraser, Steven E. Briggs, Shawn D. St. Peter, Giovanni De Petris, Jacques Heppell

Published in: Familial Cancer | Issue 2/2009

Abstract

Peutz–Jeghers syndrome is an uncommon genetic defect in the signal pathways of growth. The incidence has most recently been estimated to be in the range of 1 per 120,000 live births [1]. It is characterized by hamartomas throughout the gastrointestinal tract, mucocutaneous melanotic spots and increased predisposition to malignancy. The infrequent presentation of this syndrome in most practice combined with some less well-known diagnostic features may contribute to a misdiagnosis. Further, understanding of the genetic defect leading to the phenotypic syndrome and the future implications of this defect continue to evolve. Therefore we present a review in the setting of a case of misdiagnosed Peutz–Jeghers syndrome to portray illuminating features of the syndrome and review the literature.

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Title: Intussusception in the adult: an unsuspected case of Peutz–Jeghers syndrome with review of the literature
Authors: Jason D. Fraser
Steven E. Briggs
Shawn D. St. Peter
Giovanni De Petris
Jacques Heppell
Publication date: 01-06-2009
Publisher: Springer Netherlands
Published in: Familial Cancer / Issue 2/2009
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-008-9212-x

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