DOI: http://dx.doi.org/10.18203/2320-6012.ijrms20220534

Importance of general examination in diagnosis: a rare case report of a family affected with Albright’s hereditary osteodystrophy

Tony K. S., Ananta Narwade, Pooja Ghuge, Harish Sapkal, Rahul Patil, Pravin U. Shingade, Sunil G. Ambulkar

Abstract


Albright’s hereditary osteodystrophy (AHO) is rare constellation of signs associated with pseudohypoparathyroidism (PHP) associated with genomic imprinting in GNAS1 gene. We described a case report of a patient with AHO phenotype with pseudopseudohypoparathyroidism (PPHP) with associated chronic liver disease and its complications and her pedigree analysis.


Keywords


Albright’s hereditary osteodystrophy, Pseudohypoparathyroidism, Pseudopseudohypoparathyroidism, Parathyroid hormone, Hypersplenism, Portal hypertension

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References


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