Pseudo-trisomy 13 syndrome with upper limb shortness and radial/ulnar hypoplasia

✍ Scribed by Boles, Richard G. ;Teebi, Ahmad S. ;Neilson, Kathryn A. ;Meyn, M. Stephen

• Publisher: John Wiley and Sons
• Year: 1994
• Tongue: English
• Weight: 53 KB
• Volume: 50
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320500418

✦ Synopsis

Dr. Martin Reed (in this issue) regarding the interpretation of a xerograph in our report of a case of pseudotrisomy 13 [Boles et al., 19933. The xerograph in Figure was originally reported by our radiology department to demonstrate radial aplasidhypoplasia. However, upon reviewing the xerograph with a pediatric radiologist, we agree with Dr. Reed that the absent bone in the right arm is most likely the ulna rather than the radius. Nonetheless, the radii are hypoplastic bilaterally. In light of this revised interpretation of the xerograph, the case report should be more appropriately titled as above.