Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: surgical approach.

@article{Oliveira2013JuvenilePO,
  title={Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: surgical approach.},
  author={Patr{\'i}cia Horta Oliveira and Catarina Cunha and Susana S Almeida and Ricardo Vicente Ferreira and Sofia Maia and Jorge Manuel Tavares Lopes de Andrade Saraiva and Maria Francelina Lopes},
  journal={Journal of pediatric surgery},
  year={2013},
  volume={48 1},
  pages={e33-7}
}
Juvenile polyposis of infancy is the most severe and life-threatening form of juvenile polyposis. This disease typically presents in the first two years of life with gastrointestinal bleeding, diarrhea, inanition, and exudative enteropathy. In very few reports concerning this entity, a large deletion in the long arm of chromosome 10 (10q23), encompassing the PTEN and BMPR1A genes, was found. The authors report a case of delayed diagnosis of juvenile polyposis of infancy at 6 years of age. A 3… CONTINUE READING

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