scholarly journals Juvenile Polyposis Syndrome in a Young Patient: A Rare Case Report

2018 ◽  
Vol 3 (2) ◽  
pp. 492-494
Author(s):  
Yamuna Agrawal ◽  
Rajan Shah ◽  
Brikh Raj Joshi ◽  
Vivek Kattel

Juvenile polyposis syndrome prevalence is 1 in 16,000 to 1 in 100,000 which usually present at the age of 20 years. The tumor is likely to change into malignant condition in 20% of cases. Here we present this rare syndrome in a 16-year boy. BJHS 2018;3(2)6:492-494.

2012 ◽  
Vol 02 (03) ◽  
pp. 105-108
Author(s):  
Mounia El Yousfi ◽  
Bahija Benyachou ◽  
Adil Ibrahimi ◽  
Laila Chbani ◽  
Afaf Amarti

2021 ◽  
Vol 4 (2) ◽  
pp. 84-86
Author(s):  
Ramesh Choudhary ◽  
Romesh Gauttam ◽  
Vishnu Pansari ◽  
Anand Kumawat

Bohring–Opitz syndrome also known as Opitz C syndrome or Oberklaid–Danks syndrome is a rare syndrome. We are reporting a 2 months old male child with Bohring-Opitz like syndrome with all classical features and eventration of diaphragm   (left side) which has not  been reported yet with this syndrome.  To our knowledge, a total of 23 cases with this syndrome have been reported in the medical literature to date and this is probably the first case report from India. Although there is overlap, a clinical distinction from the Bohring-Opitz syndrome and other syndromes seems possible, and thus a specific causal entity may be postulated.


2008 ◽  
Vol 2 (1) ◽  
Author(s):  
Steven Kelly ◽  
Simon Dwerryhouse ◽  
Peter Safranek ◽  
Richard Hardwick

2018 ◽  
Vol 5 (2) ◽  
pp. 80-86
Author(s):  
Sultan M Halawi ◽  
◽  
Mohammed J Kamly ◽  
Abbas H Hobani ◽  
Manal G Mubaraki ◽  
...  

2019 ◽  
Vol 12 (6) ◽  
pp. e229881
Author(s):  
Rachel E Harris ◽  
Richard K Russell

We describe the case of a 16-year-old male patient with BMPR1A mutation and incidentally detected atrial septal defect (ASD). This patient was diagnosed with BMPR1A mutation through genetic testing and was attending for routine surveillance endoscopy when ASD was incidentally diagnosed. He was referred to cardiology outpatient clinic with plans for elective ASD closure. Through this case report we aim to discuss the pathophysiology of juvenile polyposis syndrome (JPS), highlight what we believe to be a novel presentation of comorbid BMPR1A mutation and ASD and hypothesise that patients with BMPR1A mutation and JPS may be at risk of previously unrecognised cardiovascular complications analogous to the previous association of SMAD4 JPS and cardiac abnormalities.


2016 ◽  
Vol 15 (09) ◽  
pp. 34-36
Author(s):  
Dr.Suryajit Kumar Singh ◽  
Dr. Ajeet Kumar ◽  
Dr. Rachna Kumari ◽  
Dr. Amit Kumar Sinha ◽  
Dr. Deepak Kumar

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