1. Ostéodystrophie héréditaire d'Albright: à propos d'une observation.
- Author
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Tami, Laila, Rherib, Chaima, Chefchaouni, Kanza, Knouni, Houria, and Barkat, Amina
- Subjects
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PARATHYROID hormone , *RARE diseases , *CALCIFICATION , *LOVE , *INFANTS - Abstract
Albright's hereditary osteodystrophy is a rare disease, characterized by phosphocalcic balance abnormalities related to peripheral resistance to parathyroid hormone. It is an hereditary affection with autosomal dominant inheritance pattern caused by mutation in GNAS gene1. It combines specific morphotype, subcutaneous calcifications, bone and renal resistance to parathyroid hormone. We report a new case of Albright's hereditary osteodystrophy in a 9-month old infant followed up for significant hypocalcaemia which occurred at 10 days of life. The purpose of this study was to remind clinicians of the clinical, biological, genetic and therapeutic features of this disease. [ABSTRACT FROM AUTHOR]
- Published
- 2019
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