Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Hereditary generalized juvenile polyposis associated with pulmonary arteriovenous malformation.

Literature DB >> 7372073

Hereditary generalized juvenile polyposis associated with pulmonary arteriovenous malformation.

Abstract

A 28-yr-old mother and her 10-year-old daughter with generalized juvenile gastrointestinal polypsis, arteriovenous (AV) malformations of the lung and severe digital clubbing are described. The AV malformations were documented by pulmonary angiography in both subjects, and generalized juvenile polyposis was confirmed histologically and radiographically. Since pulmonary AV malformations associated with juvenile polyposis has not been previously reported, a new hereditary syndrome is proposed.

Entities: Disease

Mesh：

Year: 1980 PMID： 7372073

Source DB: PubMed Journal: Gastroenterology ISSN： 0016-5085 Impact factor: 22.682

Keyword Cloud
Cited

14 in total

1. Combined juvenile polyposis and hereditary hemorrhagic telangiectasia.

Authors: Jane-Claire B Williams; J Kent Hamilton; Michelle Shiller; Laurice Fischer; Gregory Deprisco; C Richard Boland
Journal: Proc (Bayl Univ Med Cent) Date: 2012-10

2. Juvenile Idiopathic Arthritis Associated with Combined JP-HHT Syndrome: A Novel Phenotype Associated with a Novel Variant in SMAD4.

Authors: Juliet Chhay Bishop; Jacquelyn Francis Britton; Anne M Murphy; Sangeeta Sule; Sally Mitchell; Clifford Takemoto; Joseph M Collaco; Wikrom Karnsakul; Carmelo Cuffari; Edith Dietz; Joann Bodurtha
Journal: J Pediatr Genet Date: 2017-12-29

3. Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation.

Authors: Frank Schwenter; Marie E Faughnan; Abigail B Gradinger; Terri Berk; Robert Gryfe; Aaron Pollett; Zane Cohen; Steven Gallinger; Carol Durno
Journal: J Gastroenterol Date: 2012-02-14 Impact factor: 7.527

Review 4. Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Authors: S A Abdalla; M Letarte
Journal: J Med Genet Date: 2005-05-06 Impact factor: 6.318

Review 5. Juvenile polyposis syndrome.

Authors: Lodewijk Aa Brosens; Danielle Langeveld; W Arnout van Hattem; Francis M Giardiello; G Johan A Offerhaus
Journal: World J Gastroenterol Date: 2011-11-28 Impact factor: 5.742

6. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.

Authors: S Aretz; D Stienen; S Uhlhaas; M Stolte; M M Entius; S Loff; W Back; A Kaufmann; K-M Keller; S H Blaas; R Siebert; S Vogt; S Spranger; E Holinski-Feder; L Sunde; P Propping; W Friedl
Journal: J Med Genet Date: 2007-09-14 Impact factor: 6.318

Hereditary generalized juvenile polyposis associated with pulmonary arteriovenous malformation.

1. Combined juvenile polyposis and hereditary hemorrhagic telangiectasia.

2. Juvenile Idiopathic Arthritis Associated with Combined JP-HHT Syndrome: A Novel Phenotype Associated with a Novel Variant in SMAD4.

3. Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation.

Review 4. Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Review 5. Juvenile polyposis syndrome.

6. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.

7. Hereditary hemorrhagic telangiectasia and juvenile polyposis: an overlap of syndromes.

8. Hereditary generalized juvenile polyposis: association with arteriovenous malformations and risk of malignancy.

9. The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.

10. Colonic hamartomatous polyposis associated with hypertrophic osteoarthropathy.