Albright hereditary osteodystrophy: A rare case report

Abstract

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.

Keywords

• Albright hereditary osteodystrophy
• hyperphosphatemia
• hypocalcaemia
• pseudohypoparathyroidism
• pseudopseudohypoparathyrodism
• stimulatory guanine nucleotide binding regulatory protein (Gs-alpha activity)