Open AccessAlbright hereditary osteodystrophy: A rare case report
Author(s) -
Mridula Goswami,
Mahesh Verma,
Aarti Singh,
Harpreet Grewal,
Gyanendra Kumar
Publication year - 2009
Publication title -
journal of the indian society of pedodontics and preventive dentistry/journal of indian society of pedodontics and preventive dentistry
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.378
H-Index - 33
eISSN - 1998-3905
pISSN - 0970-4388
DOI - 10.4103/0970-4388.57101
Subject(s) - pseudohypoparathyroidism , medicine , hyperphosphatemia , short stature , osteodystrophy , hypocalcaemia , brachydactyly , parathyroid hormone , hypoparathyroidism , dermatology , endocrinology , kidney disease , calcium
Albright hereditary osteodystrophy (AHO) is a rare hereditary metabolic disorder that may be associated with or without resistant to parathyroid hormone (pseudohypoparathyroidism). It is commonly characterized by a constellation of physical features of short stature, round face, short neck, and small metacarpals and metatarsals, mild mental retardation, osteoporosis, subcutaneous calcification, and sometimes olfactory and hearing functional defect. Hypocalcaemia and hyperphosphatemia are the most important manifestations of the case. We report a clinical case of siblings with AHO with reduced Gs-alpha activity and we discuss their clinical features with oral manifestations, radiographic findings, laboratory tests along with treatment.