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[Case of pseudopseudohypoparathyroidism].
Minerva Medica
|October 27, 1975
Summary
This case report details pseudo-pseudo-parathyroidism, a condition with normal bloodwork but distinct bone abnormalities. It highlights characteristic shortening of metacarpals and metatarsals, alongside potential syndactyly.
Area of Science:
- Endocrinology
- Genetics
- Orthopedics
Background:
- Pseudo-pseudo-hypoparathyroidism (PPHP) is a rare genetic disorder.
- It is characterized by features resembling pseudo-hypoparathyroidism but with normal serum calcium and phosphate levels.
- Skeletal abnormalities are a key diagnostic feature.