ALBRIGHT'S HEREDITARY OSTEODYSTROPHY (WITHOUT HYPOCALCEMIA)

A case of Albright's hereditary osteodystrophy without hypocalcemia (pseudo-pseudohypoparathyroidism) is presented. In a review of 41 cases reported in the literature we found that the most commonly described features in order of frequency were short metacarpal or metatarsal bones (92%), short stature (76%), round face (71%), mental retardation (64%), obesity (61%), ectopic calcinosis (35%), and exostoses (23%). The familial occurrence of pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism in members of the same family, the inconsistency of hypocalcemia in many cases, and the similarity of the main manifestations and sex ratio in both conditions suggest that these are merely two forms of the same syndrome. It seems that this is an hereditary syndrome showing the phenomenon of pleiotropy. The basic defect is still unknown. The proposed terminology for this syndrome is discussed. It is concluded that only the skeletal dysplasia and the radiographic features can distinguish this disorder from idiopathic hypoparathyroidism.