Anophthalmia-Waardenburg syndrome or Ophthalmo-Acromelic syndrome: What is in a name?
✍ Scribed by Quarrell, O. W. J.
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 80 KB
- Volume
- 69
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
✦ Synopsis
In a recent article, Suyugu ¨l et al. [1996] described two Turkish families with anophthalmia and distal limb abnormalities. This is a recognised but rare autosomal recessive condition. The authors described these cases under the title of ''Anophthalmia-Waardenburg syndrome,'' but in the text they commented that an alternative name was ''ophthalmo-acromelic syndrome. published a report and suggested that ophthalmo-acromelic syndrome may be a better description since patients can have microphthalmia rather than anophthalmia. In 1995, I published another case under the title of ophthalmoacromelic syndrome. It is difficult to be prescriptive about the name for a rare syndrome, but independent use of alternative names will undoubtedly cause confusion. Perhaps