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|Title:||Pseudohypoparathyroidism in a mother and son: phenotypic variability and associated disorder.|
|Citation:||Ray M, Goraya J, Basu S, Mitra S, Poddar B, Parmar V. Pseudohypoparathyroidism in a mother and son: phenotypic variability and associated disorder. Indian Journal of Pediatrics. 2001 Mar; 68(3): 279-81|
|Abstract:||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 stimulating hormone levels. Special note is made of the intra and interpatient variability of this rare inherited disorder.|
|Appears in Collections:||Indian Journal of Pediatrics|
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