Albright's hereditary osteodystrophy

Acta Paediatr Scand. 1980 May;69(3):305-9. doi: 10.1111/j.1651-2227.1980.tb07083.x.

Abstract

The authors observed different clinical forms of Albright's hereditary osteodystrophy in 4 members of a family (two sisters, their mother and the maternal grandfather). The sisters were affected by pseudohypoparathyroidism type I, the older manifested the hypocalcemic variety, the younger the normocalcemic variety; the mother and the grandfather presented only with short stature and subcutaneous calcifications. The variety of clinical and biochemical alterations observed in these 3 generations supports evidence that Albright's hereditary osteodystrophy has a broad spectrum and that distinctions between the various forms of pseudohypoparathyroidsim should not be rigidly considered.

MeSH terms

  • Adult
  • Aged
  • Body Height
  • Calcium / blood
  • Carpal Bones / diagnostic imaging
  • Child
  • Cyclic AMP / blood
  • Female
  • Fibrous Dysplasia of Bone / genetics*
  • Fibrous Dysplasia, Polyostotic / genetics*
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Parathyroid Hormone / blood
  • Phosphorus / blood
  • Pseudohypoparathyroidism / genetics
  • Radiography

Substances

  • Parathyroid Hormone
  • Phosphorus
  • Cyclic AMP
  • Calcium