Albright hereditary osteodystrophy

Albright hereditary osteodystrophy

Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy.

EDITOR—Albright hereditary osteodystrophy (AHO) is an autosomal dominant disorder characterised by short stature, a round face with a low, flat nasal bridge, brachymetaphalangism, particularly of the fourth and fifth digits, obesity, subcutaneous calcification, and variable degrees of mental retardation. Patients may show end organ resistance to parathyroid hormone (PTH), known as pseudohypopar...

Heterotopic Ossifications in a Mouse Model of Albright Hereditary Osteodystrophy

Albright hereditary osteodystrophy (AHO) is characterized by short stature, brachydactyly, and often heterotopic ossifications that are typically subcutaneous. Subcutaneous ossifications (SCO) cause considerable morbidity in AHO with no effective treatment. AHO is caused by heterozygous inactivating mutations in those GNAS exons encoding the α-subunit of the stimulatory G protein (Gα(s)). When ...

Bariatric surgery in an obese patient with Albright hereditary osteodystrophy: a case report

INTRODUCTION We report for the first time the case of a patient with Albright hereditary osteodystrophy and pseudopseudohypoparathyroidism who underwent a Roux-en-Y gastric bypass. CASE PRESENTATION A 26-year-old obese Caucasian woman with Albright hereditary osteodystrophy with pseudopseudohypoparathyroidism (heterozygous mutation (L272F) in GNAS1 exon 10 on molecular analysis) was treated w...

Case Reports Oral Manifestations of Albright Hereditary Osteodystrophy: a Case Report

Albright hereditary osteodystrophy is a hereditary metabolic disorder of dominant autosomal etiology that is commonly characterized by short stature, round face, small metacarpus and metatarsus, mental retardation, osteoporosis, subcutaneous calcification, variable hypocalcemia, and hyperphosphatemia. In this study, we report a clinical case of a 17-year-old woman with Albright hereditary osteo...