USMLE forum
 
USMLE Forum
Step 1
Step 2 CK
Step 2 CS
Matching & Residency
Step 3
Classifieds
 
Archives
 
 
  <<   < *  Step 1   *  >   >>  

* boy, puffy eyes, star-like pattern on the iris
 #263339  
  proteus - 01/22/08 03:44
 
  A mildly mentally retarded 4-year-old boy with cardiovascular disease undergoes an angiogram which shows supravalvular aortic stenosis (SVAS). The boy has puffy eyes and a star-like pattern on the iris of both eyes. This condition is most likely caused by which of the following?

A. Gene deletions
B. Maternal nondisjunction
C. Frameshift mutation
D. Robertsonian translocation
E. Sex chromosome aneuploidy

 
Report Abuse

 
 

* Re:boy, puffy eyes, star-like pattern on the iris
#1136404
  proteus - 01/22/08 06:21
 
  No opinion?  
Report Abuse

* Re:boy, puffy eyes, star-like pattern on the iris
#1136466
  kola - 01/22/08 08:22
 
  ddddd  
Report Abuse

* Re:boy, puffy eyes, star-like pattern on the iris
#1136475
  drguru - 01/22/08 08:42
 
  is it wiliam s syndrome  
Report Abuse

* Re:boy, puffy eyes, star-like pattern on the iris
#1136485
  kola - 01/22/08 08:51
 
  yes it is williams syndrome-Over 99% of individuals with the clinical diagnosis of WS have this contiguous gene deletion, which can be detected using fluorescent in situ hybridization (FISH) or targeted mutation analysis.

answer aaa
 
Report Abuse

* Re:boy, puffy eyes, star-like pattern on the iris
#1137701
  kaham - 01/22/08 23:15
 
  u r right...aaaaa  
Report Abuse

* Re:boy, puffy eyes, star-like pattern on the iris
#1139753
  epos - 01/24/08 03:15
 
  answer please  
Report Abuse

* Re:boy, puffy eyes, star-like pattern on the iris
#1139756
  vacco - 01/24/08 03:20
 
  Williams Syndrome (WS) is a rare genetic disorder characterized by mild to moderate mental retardation or learning difficulties, a distinctive facial appearance, and a unique personality that combines overfriendliness and high levels of empathy with anxiety. The most significant medical problem associated with WS is cardiovascular disease caused by narrowed arteries. WS is also associated with elevated blood calcium levels in infancy. A random genetic mutation (deletion of a small piece of chromosome 7), rather than inheritance, most often causes the disorder. However, individuals who have WS have a 50 percent chance of passing it on if they decide to have children. The characteristic facial features of WS include puffiness around the eyes, a short nose with a broad nasal tip, wide mouth, full cheeks, full lips, and a small chin. People with WS are also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine. Some individuals with WS have a star-like pattern in the iris of their eyes. Infants with WS are often irritable and colicky, with feeding problems that keep them from gaining weight. Chronic abdominal pain is common in adolescents and adults. By age 30, the majority of individuals with WS have diabetes or pre-diabetes and mild to moderate sensorineural hearing loss (a form of deafness due to disturbed function of the auditory nerve). For some people, hearing loss may begin as early as late childhood. WS also is associated with a characteristic “cognitive profile” of mental strengths and weaknesses composed of strengths in verbal short-term memory and language, combined with severe weakness in visuospatial construction (the skills used to copy patterns, draw, or write). Within language, the strongest skills are typically in concrete, practical vocabulary, which in many cases is in the low average to average range for the general population. Abstract or conceptual-relational vocabulary is much more limited. Most older children and adults with WS speak fluently and use good grammar. More than 50% of children with WS have attention deficit disorders (ADD or ADHD), and about 50% have specific phobias, such as a fear of loud noises. The majority of individuals with WS worry excessively.  
Report Abuse

* Re:boy, puffy eyes, star-like pattern on the iris
#1139960
  proteus - 01/24/08 09:51
 
  Choice (A) is the correct answer. Williams syndrome is characterized by mental retardation, characteristic facial features, hypercalcemia, and dental malformations. Patients with Williams syndrome often have cardiovascular disease, which includes supravalvular aortic stenosis (SVAS). Facial features include a long filtrum, a small upturned nose, and a large mouth with full lips. The chin is small, and the eyes are puffy with a star-like pattern on the iris of both eyes. Williams syndrome is a microdeletion syndrome caused by gene deletions at chromosome 7q1. The other choices are incorrect.
 
Report Abuse

          Page 1 of 1          

[<<First]   [<Prev]  ... Message ...  [Next >]   [Last >>]

 
Logon to post a new Message/Reply
 
 
 
 

 

 

Google
  Web USMLEforum.com
 

Step 1 Step 2 CK Step 2 CS Matching & Residency Step 3 Classifieds
LoginUSMLE LinksHome