Albright hereditary osteodystrophy (AHO) is a form of osteodystrophy and is also classified as a phenotype of pseudohypoparathyroidism (i.e. type 1a).
The 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.
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