Albright's hereditary osteodystrophy.
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.
D000328:Adult; D000368:Aged; D001827:Body Height; D002118:Calcium / Q000097:blood; D002348:Carpal Bones / Q000000981:diagnostic imaging; D002648:Child; D000242:Cyclic AMP / Q000097:blood; D005260:Female; D005357:Fibrous Dysplasia of Bone / Q000235:genetics*; D005359:Fibrous Dysplasia, Polyostotic / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010281:Parathyroid Hormone / Q000097:blood; D010758:Phosphorus / Q000097:blood; D011547:Pseudohypoparathyroidism / Q000235:genetics; D011859:Radiography
D010281:Parathyroid Hormone; D010758:Phosphorus; D000242:Cyclic AMP; D002118:Calcium