AJR
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Abstract Freely available
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Mehollin-Ray, A. R.
Right arrow Articles by Wang, L. L.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Mehollin-Ray, A. R.
Right arrow Articles by Wang, L. L.
Social Bookmarking
Add to CiteULike   Add to Complore   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati  
What's this?
Hotlight (NEW!)
Right arrow
What's Hotlight?

Radiographic Abnormalities in Rothmund-Thomson Syndrome and Genotype–Phenotype Correlation with RECQL4 Mutation Status

Amy R. Mehollin-Ray1, Claudia A. Kozinetz2, Alan E. Schlesinger1, R. Paul Guillerman1 and Lisa L. Wang3

1 Department of Radiology, Baylor College of Medicine, The Edward B. Singleton Department of Diagnostic Imaging, Texas Children's Hospital, Houston, TX.
2 Department of Pediatrics, Baylor College of Medicine, Houston, TX.
3 Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine, 6621 Fannin St., MC 3-3320, Houston, TX 77030.


Figure 1
View larger version (119K):
[in this window]
[in a new window]
[as a PowerPoint slide]
  		Fig. 1 —18-month-old girl with Rothmund-Thomson syndrome. Radiograph shows aplasia of right thumb (arrow). Brachymesophalangy of second and fifth fingers with associated clinodactyly also is present.

 

Figure 2
View larger version (47K):
[in this window]
[in a new window]
[as a PowerPoint slide]
  		Fig. 2 —41-year-old man with Rothmund-Thomson syndrome. Radiograph shows synostosis of proximal radius and ulna (arrow).

 

Figure 3
View larger version (66K):
[in this window]
[in a new window]
[as a PowerPoint slide]
  		Fig. 3 —2-year-old boy with Rothmund-Thomson syndrome. Radiograph shows osteopenia and radiocapitellar dislocation.

 

Figure 4
View larger version (103K):
[in this window]
[in a new window]
[as a PowerPoint slide]
  		Fig. 4 —9-month-old boy with Rothmund-Thomson syndrome. Radiograph shows brachymesophalangy of second and fifth fingers and associated clinodactyly (arrows). Hypoplasia of radius, first metacarpal, and first proximal phalanx also is present.

 

Figure 5
View larger version (103K):
[in this window]
[in a new window]
[as a PowerPoint slide]
  		Fig. 5A —22-year-old woman with Rothmund-Thomson syndrome. Radiographs show both horizontal and vertical metaphyseal striations (arrow) at right wrist (A) and left ankle (B).

 

Figure 6
View larger version (80K):
[in this window]
[in a new window]
[as a PowerPoint slide]
  		Fig. 5B —22-year-old woman with Rothmund-Thomson syndrome. Radiographs show both horizontal and vertical metaphyseal striations (arrow) at right wrist (A) and left ankle (B).

 

Add to CiteULike CiteULike   Add to Complore Complore   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati    What's this?



HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2008 by the American Roentgen Ray Society.