Multiple Defects Syndrome in a child! - USMLE Forums
USMLE Forums Logo
USMLE Forums         Your Reliable USMLE Online Community     Members     Posts
Home
USMLE Articles
USMLE News
USMLE Polls
USMLE Books
USMLE Apps
Go Back   USMLE Forums > USMLE Step 1 Forum

USMLE Step 1 Forum USMLE Step 1 Discussion Forum: Let's talk about anything related to USMLE Step 1 exam


Reply
 
Thread Tools Search this Thread Display Modes
  #1  
Old 06-17-2012
USMLE Forums Master
 
Steps History: 1+CK+CS+3
Posts: 791
Threads: 76
Thanked 673 Times in 317 Posts
Reputation: 691
Kids Multiple Defects Syndrome in a child!

A 3-year-old boy is noted to have absence of the iris bilaterally, cryptorchidism, hypospadias, and mental retardation. His mother has noticed over the past 3 months that the child has an enlarging abdomen. On physical examination, there is a palpable mass. An abdominal CT scan shows bilateral adrenal enlargement and pancreatic enlargement. There is a 6- cm solid mass in the left kidney. Which of the following congenital disorders is the most likely diagnosis?
(A) Edwards syndrome
(B) Marfan syndrome
(C) McArdle syndrome
(D) Klinefelter syndrome
(E) Patau syndrome
(F) Turner syndrome
(G) WAGR syndrome
Reply With Quote Quick reply to this message



  #2  
Old 06-17-2012
Hope2Pass's Avatar
USMLE Forums Master
 
Steps History: 1+CK+CS+3
Posts: 1,684
Threads: 213
Thanked 1,600 Times in 660 Posts
Reputation: 1610
Default

I'd go with WAGR syndrome. Tough question!
Reply With Quote Quick reply to this message
  #3  
Old 06-17-2012
USMLE Forums Scout
 
Steps History: 1+CK+CS
Posts: 40
Threads: 1
Thanked 51 Times in 16 Posts
Reputation: 61
Default

yeah definately WAGR syndrome(G)

Wilm's tumour: 6- cm solid mass in the left kidney

Aniridia

GU anomalies: cryptorchidism, hypospadias

Retardation
Reply With Quote Quick reply to this message
The above post was thanked by:
Highlander (06-19-2012), Lara (06-17-2012)
 
  #4  
Old 06-17-2012
USMLE Forums Addict
 
Steps History: 1+CK+CS
Posts: 163
Threads: 16
Thanked 95 Times in 46 Posts
Reputation: 105
Default

WAGR syndrome.
Reply With Quote Quick reply to this message
  #5  
Old 06-18-2012
USMLE Forums Master
 
Steps History: 1+CK+CS+3
Posts: 791
Threads: 76
Thanked 673 Times in 317 Posts
Reputation: 691
Default

its G.....
Reply With Quote Quick reply to this message
  #6  
Old 06-19-2012
Highlander's Avatar
USMLE Forums Addict
 
Steps History: Step 1 Only
Posts: 111
Threads: 15
Thanked 18 Times in 18 Posts
Reputation: 28
Default

Quote:
Originally Posted by anomali View Post
A 3-year-old boy is noted to have absence of the iris bilaterally, cryptorchidism, hypospadias, and mental retardation. His mother has noticed over the past 3 months that the child has an enlarging abdomen. On physical examination, there is a palpable mass. An abdominal CT scan shows bilateral adrenal enlargement and pancreatic enlargement. There is a 6- cm solid mass in the left kidney. Which of the following congenital disorders is the most likely diagnosis?
(A) Edwards syndrome
(B) Marfan syndrome
(C) McArdle syndrome
(D) Klinefelter syndrome
(E) Patau syndrome
(F) Turner syndrome
(G) WAGR syndrome
WAGR syndrome- Patients usually present with aniridia, genitourinary malformations and mental retardation and are at increased risk of Wilm's tumor, hence the term WAGR (Wilm's, Aniridia, Genitorurinary and Retardation). Caused due to loss of chromosomal material from short arm of chromosome 11.

Last edited by Highlander; 06-19-2012 at 08:22 AM. Reason: spelling
Reply With Quote Quick reply to this message
  #7  
Old 06-25-2012
curiousmind's Avatar
USMLE Forums Scout
 
Steps History: ---
Posts: 82
Threads: 5
Thanked 21 Times in 15 Posts
Reputation: 31
Thumbs Up

(G) WAGR syndrome
Reply With Quote Quick reply to this message
  #8  
Old 07-02-2012
USMLE Forums Newbie
 
Steps History: Step 1 Only
Posts: 9
Threads: 1
Thanked 0 Times in 0 Posts
Reputation: 10
Default

WAGR syndrome
Reply With Quote Quick reply to this message



Reply

Tags
Genetics-, Pathology-, Step-1-Questions, Syndromes-Acronyms

Quick Reply
Message:
Options

Register Now

In order to be able to post messages on the USMLE Forums forums, you must first register.
Please enter your desired user name, your email address and other required details in the form below.
User Name:
Password
Please enter a password for your user account. Note that passwords are case-sensitive.
Password:
Confirm Password:
Email Address
Please enter a valid email address for yourself.
Email Address:
Medical School
Choose "---" if you don't want to tell. AMG for US & Canadian medical schools. IMG for all other medical schools.
USMLE Steps History
What steps finished! Example: 1+CK+CS+3 = Passed Step 1, Step 2 CK, Step 2 CS, and Step 3.

Choose "---" if you don't want to tell.

Favorite USMLE Books
What USMLE books you really think are useful. Leave blank if you don't want to tell.
Location
Where you live. Leave blank if you don't want to tell.

Log-in

Human Verification

In order to verify that you are a human and not a spam bot, please enter the answer into the following box below based on the instructions contained in the graphic.



Thread Tools Search this Thread
Search this Thread:

Advanced Search
Display Modes


Similar Threads
Thread Thread Starter Forum Replies Last Post
Maternal Folate and Neural Tube Defects? johndoe3344 USMLE Step 1 Forum 27 05-24-2012 07:00 AM
Neural Tube Defects and Closure of Neuropores! rose USMLE Step 1 Forum 1 01-28-2012 01:01 AM
MMR vaccine and birth defects Seetal USMLE Step 2 CK Forum 4 10-28-2011 04:30 AM
Separating the child from parents in child abuse deyneko USMLE Step 1 Forum 1 10-21-2011 01:02 PM
Pathological fractures and hearing defects Ace3 USMLE Step 2 CK Forum 17 07-30-2011 04:21 AM

RSS Feed
Find Us on Facebook
vBulletin Security provided by vBSecurity v2.2.2 (Pro) - vBulletin Mods & Addons Copyright © 2017 DragonByte Technologies Ltd.

USMLE® & other trade marks belong to their respective owners, read full disclaimer
USMLE Forums created under Creative Commons 3.0 License. (2009-2014)