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American Journal of Roentgenology, Vol 97, 49-66, Copyright © 1966 by American Roentgen Ray Society


THE ROENTGEN APPEARANCE OF PSEUDOHYOP-PARATHYROIDISM (PH) AND PSEUDO-PSEUDO-HYPOPARATHYROIDISM (PPH)

DIFFERENTIATION FROM OTHER SYNDROMES ASSOCIATED WITH SHORT METACARPALS, METATARSALS, AND PHALANGES

HOWARD L. STEINBACH M.D.1 and DUANE A. YOUNG 1

1 From the Department of Radiology, University of California School of Medicine, San Francisco, California

Pseudohypoparathyroidism (PH) is a hereditary congenital abnormality consisting of 3 separate components: (1) metabolic abnormalities of low serum calcium and high phosphorus which do not respond adequately to parathyroid hormone; (2) short stature and disproportionate shortening of some metacarpals, metatarsals, and phalanges, which may develop after birth; (3) ossification or calcification of the soft tissues. The soft tissue ossification or calcification may be the initial lesion with skeletal deformity and characteristic electrolyte disturbance developing later.

Pseudo-pseudohypoparathyroidism (PPH) is a partial manifestation of the same syndrome with normal calcium and phosphorus levels in the serum.

The skeletal and soft tissue lessions have been tabulated and are presented. Similar lesions of the metacarpals, metatarsals and phalanges occur with multiple familial exostoses, Turner's syndrome, and other less common syndromes, but these have other roentgen, clinical, and genetic findings that indicate the correct diagnosis.


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Copyright © 1966 by the American Roentgen Ray Society.