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Albright's hereditary osteodystrophy (AHO)
Clinical presentation of most patients with pseudohypopara- thyroidism.
Pathology:
- expression or the activity of GNAS is diminished
Genetics:
- autosomal dominant
- associated with defects in GNAS
Clinical manifestations:
1) short stature
2) round face
3) skeletal anomalies -> brachydactyly
4) heterotopic subcutaneous calcification
Laboratory:
1) serum calcium: hypocalcemia
2) elevated serum phosphate
3) elevated serum PTH
Management:
-> see pseudohypoparathyroidism
Related
pseudohypoparathyroidism
General
osteodystrophy
genetic disease of bone/skeletal system
Database Correlations
OMIM 103580
References
- Harrison's Principles of Internal Medicine, 14th ed.
Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2244
- OMIM :accession 103580