In a recent article, Suyugu ยจl 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 c
What is in a name?
โ Scribed by Jane McCaffrey
- Publisher
- Wiley (John Wiley & Sons)
- Year
- 2003
- Tongue
- English
- Weight
- 51 KB
- Volume
- 23
- Category
- Article
- ISSN
- 1074-4797
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Working in the field of clinical genetics, we try to delineate clinical entities and to find the causes. We deal with people and try to handle them and their children with care. We describe the clinical symptoms as well as possible and use internationally agreed on terminology in speaking of cause a
Dr. Schrander-Stumpel is quite right. We need to show some sense and sensibility in naming syndromes. Devising nomenclature is a different exercise from playing Scrabble. CRASH and CATCH22 may have some use as mnemonics, but are not necessarily helpful in dealing with parents and patients. These exa