Albright hereditary osteodystrophy: a rare case report.
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.
Department of Pediatric and Preventive Dentistry, Maulana Azad Institute of Dental Sciences, New Delhi, India.
M
M
Goswami
M
M
Verma
A
A
Singh
H
H
Grewal
G
G
Kumar
D000293:Adolescent; D002864:Chromogranins; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000235:genetics*; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics; D006801:Humans; D054559:Hyperphosphatemia / Q000235:genetics; D006996:Hypocalcemia / Q000235:genetics; D008312:Malocclusion, Angle Class II / Q000209:etiology; D024343:Open Bite / Q000209:etiology; D011556:Pseudopseudohypoparathyroidism / Q000235:genetics; D013972:Thyrotropin / Q000097:blood; D013974:Thyroxine / Q000097:blood; D014071:Tooth Abnormalities / Q000235:genetics*
D002864:Chromogranins; D013972:Thyrotropin; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs; D013974:Thyroxine