Albright-Osteodystrophie
Albright hereditary osteodystrophy (AHO) is a form of osteodystrophy and is also classified as a phenotype of pseudohypoparathyroidism (i.e. type 1a).
Typical clinical spectrum includes
- short, stocky build
- round facies with a low, flat nasal bridge
- short neck
- ectopic ossifications
- brachymetaphalangism
- developmental delay, with or without endocrine abnormalities .
There can be considerable phenotypic variation between patients.
History and etymology
It is named after Dr Fuller Albright (American endocrinologist) who first characterized it in 1942.
Siehe auch:
und weiter:
