What is Jansen disease?
belongs to book: CLINICAL CASES IN ENDOCRINOLOGY|Pramila Kalra|| Chapter number:16| Question number:1.21
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belongs to book: CLINICAL CASES IN ENDOCRINOLOGY|Pramila Kalra|| Chapter number:16| Question number:1.21
total answers (1)
This is an autosomal dominant condition resulting from constitutive receptor functioning. It occurs due to mutations in PTH1R. ↑Ca, ↓Phosphate,
↓PTH is seen.
Short-limbed dwarfism occurs due to abnormal regulation of bone growth plate. Multiple cystic resorptive areas in bone occur, similar to those seen in severe primary hyperparathyroidism.
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