Reply to Dr. Rogers: Comments on ectrodactyly and trisomy 18, and other conditions

✍ Scribed by Lacassie, Yves

• Publisher: John Wiley and Sons
• Year: 1994
• Tongue: English
• Weight: 61 KB
• Volume: 49
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320490126

✦ Synopsis

The patient reported by further supports that ectrodactyly is not such an exceptional finding in trisomy 18.

Another unusual finding in our patient [Becerra et al., 19921, precluding the clinical diagnosis, was the concomitant absence of the characteristic-although not pathognomonic-hands. Unfortunately no pictures of the hands are shown in Rogers' case.

Among the multiple syndromes and conditions presenting with ectrodactyly, I wish to stress the proximal/ intermediate interstitial deletions 7q involving a critical segment for ectrodactyly located between 7q21.2 and 22.1. Although this is not such a common disorder as trisomy 18, the high frequency of ectrodactyly reported Naritomi et al., 19931 makes it important. Hence, a chromosomal study using a high resolution banding technique is recommended in patients with ectrodactyly.