Pseudohypoparathyroidism in a mother and son: phenotypic variability and associated disorder.

Abstract excerpt

A 2-month-old infant with clinical features of hypothyroidism presented with hypocalcemic seizures. The maternal phenotypic features aroused the suspicion of pseudohypoparathyroidism which was confirmed in both by biochemical and endocrinological investigations. Though the child had clinical and radiological features to suggest hypothyroidism he had normal free thyroxine and only slightly elevated thyroid...

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