Imprinting in Albright's hereditary osteodystrophy.

Imprinting in Albright's hereditary osteodystrophy.

Review of published reports of Albright's hereditary osteodystrophy (AHO) involving two or more generations shows a marked excess of maternal transmission. Full expression of the gene (AHO + hormone resistance, pseudohypoparathyroidism) occurs in maternally transmitted cases and partial expression (AHO alone) when the gene is inherited from the father, suggesting the involvement of genomic impr...

Albright hereditary osteodystrophy

Albright's hereditary osteodystrophy.

Albright's hereditary osteodystrophy is a rare inherited metabolic disorder characterized by a typical phenotype. It may be associated with or without resistance to parathyroid hormone (pseudohypoparathyroidism). Both forms may co-exist in the same family. Pseudohypoparathyroidism Type 1 and Pseudo-pseudohypoparathyroidism occur as a consequence of reduced erythrocyte membrane coupled with Gs a...

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 ...

Albright’s Hereditary Osteodystrophy: A Constellation of Clinical Features

Pseudohypoparathyroidism (PHP) is an inherited metabolic disorder characterized by end-organ resistance to the action of PTH (Parathyroid Hormone). There are four types of PHPs namely Ia, Ib, Ic and II. PHP Ia is associated with a constellation of clinical features referred to as Albright’s Hereditary Osteodystrophy (AHO). The oral manifestation of AHO found in the literature includes aplasia a...