Albright hereditary osteodystrophy

2011 ◽  
Keyword(s):  
Albright Hereditary Osteodystrophy

Acromesomelic and Acromelic Dysplasias/Dysostoses

2018 ◽  
pp. 443-496
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Albright Hereditary Osteodystrophy ◽  
Grebe Dysplasia ◽  
Myhre Syndrome ◽  
Acromicric Dysplasia

This chapter discusses acromesomelic and acromelic dysplasias/dysostoses and related disorders and includes discussion on acromesomelic dysplasias (Maroteaux type), Grebe dysplasia, brachydactyly A1, brachydactyly B, brachydactyly C, brachydactyly D, brachydactyly E, brachydactyly (Christian type), tricho-rhino-phalangeal dysplasia (type 1), tricho-rhino-phalangeal dysplasia (type 2), acrocapitofemoral dysplasia, Albright hereditary osteodystrophy, acrodysostosis, geleophysic dysplasia, acromicric dysplasia, Myhre syndrome, and SOFT syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

scholarly journals Albright hereditary osteodystrophy: dental management case report

2018 ◽  
Vol 66 (1) ◽  
pp. 106-110
Author(s):  
Stephanie Anagnostopoulos FRIEDRICH ◽  
Jonas RODRIGUES ◽  
Berenice Barbachan e SILVA
Keyword(s):  
Case Report ◽  
Short Stature ◽  
Enamel Hypoplasia ◽  
Phenotypic Characteristics ◽  
Genetic Origin ◽  
Albright Hereditary Osteodystrophy ◽  
Presenting Symptoms ◽  
Behavioural Difficulties ◽  
Dental Management ◽  
Dental Appointments

ABSTRACT Albright hereditary osteodystrophy is a disorder comprising phenotypic characteristics of genetic origin, such as short stature, obesity, and brachydactyly. It is a rare disorder and is related to pseudohypoparathyroidism. Within dentistry, it may be associated with enamel hypoplasia and late eruption. Furthermore, due to neurological problems, these patients may impose behavioural difficulties during dental appointments. The present study aims to describe the case of a patient with a possible diagnosis of Albright hereditary osteodystrophy, presenting symptoms and limitations to dental management.

scholarly journals Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a GNAS mutation

2018 ◽  
Vol 6 (10) ◽  
pp. 1933-1940
Author(s):  
Valérie Leclercq ◽  
Valérie Benoit ◽  
Damien Lederer ◽  
Melanie Delaunoy ◽  
Marcela Ruiz ◽  
...  
Keyword(s):  
Case Report ◽  
Albright Hereditary Osteodystrophy ◽  
Gnas Mutation

Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy

2015 ◽  
Vol 28 (7-8) ◽  
Author(s):  
Maria H. Lin ◽  
Nawaporn Numbenjapon ◽  
Emily L. Germain-Lee ◽  
Pisit Pitukcheewanont
Keyword(s):  
Lower Extremity ◽  
Ct Scan ◽  
Wide Spectrum ◽  
Subcutaneous Tissue ◽  
Muscle Pathology ◽  
Limited Joint Mobility ◽  
Albright Hereditary Osteodystrophy ◽  
Genomic Study ◽  
Vitamin D Levels ◽  
Progressive Osseous Heteroplasia

AbstractProgressive osseous heteroplasia (POH) is a condition of invasive heterotopic ossification. Reports of patients with mild POH with Albright hereditary osteodystrophy (AHO), specifically pseudohypoparathyroidism type Ia (PHP Ia) with hormonal resistance, suggest the possibility of a common molecular basis.A 4-year-old boy with obesity, speech delay, and expanding subcutaneous masses on buttock/forearm. Physical exam revealed round facies and brachydactyly. Blood tests showed normal Ca, P, Mg, 25-OH vitamin D levels but elevated parathyroid hormone (PTH) and thyroid-stimulating hormone (TSH). Abdominal computed tomography (CT) showed areas with calcifications in the subcutaneous tissue, fat, and muscle. Pathology of excised tissue revealed ossifications. Genomic study revealed noA 3-year-old boy with painful ossifications in the left lower extremity. Lab tests were notable for elevated PTH and high-normal TSH. The CT-scan showed subcutaneous/intramuscular calcifications. Genetic testing showedA 9-year-old boy with knee pain and subcutaneous ossifications in back and upper/lower extremity, causing significantly limited joint mobility. Lab tests were normal. The CT-scan showed areas corresponding to subcutaneous/intramuscular ossifications throughout torso and extremities, consistent with POH. There was noPatients with heterotopic ossifications present with a wide spectrum of disease. Although

scholarly journals Minireview: GNAS: Normal and Abnormal Functions

Endocrinology ◽  
2004 ◽  
Vol 145 (12) ◽  
pp. 5459-5464 ◽  
Author(s):  
Lee S. Weinstein ◽  
Jie Liu ◽  
Akio Sakamoto ◽  
Tao Xie ◽  
Min Chen
Keyword(s):  
Differentially Methylated Region ◽  
Endocrine Tumors ◽  
Α Subunit ◽  
Tissue Specific ◽  
Albright Hereditary Osteodystrophy ◽  
Multiple Promoters ◽  
Fibrous Dysplasia Of Bone ◽  
Albright Syndrome ◽  
Key Residues ◽  
Inherited Mutations

Abstract GNAS is a complex imprinted gene that uses multiple promoters to generate several gene products, including the G protein α-subunit (Gsα) that couples seven-transmembrane receptors to the cAMP-generating enzyme adenylyl cyclase. Somatic activating Gsα mutations, which alter key residues required for the GTPase turn-off reaction, are present in various endocrine tumors and fibrous dysplasia of bone, and in a more widespread distribution in patients with McCune- Albright syndrome. Heterozygous inactivating Gsα mutations lead to Albright hereditary osteodystrophy. Gsα is imprinted in a tissue-specific manner, being primarily expressed from the maternal allele in renal proximal tubules, thyroid, pituitary, and ovary. Maternally inherited mutations lead to Albright hereditary osteodystrophy (AHO) plus PTH, TSH, and gonadotropin resistance (pseudohypoparathyroidism type 1A), whereas paternally inherited mutations lead to AHO alone. Pseudohypoparathyroidism type 1B, in which patients develop PTH resistance without AHO, is almost always associated with a GNAS imprinting defect in which both alleles have a paternal-specific imprinting pattern on both parental alleles. Familial forms of the disease are associated with a mutation within a closely linked gene that deletes a region that is presumably required for establishing the maternal imprint, and therefore maternal inheritance of the mutation results in the GNAS imprinting defect. Imprinting of one differentially methylated region within GNAS is virtually always lost in pseudohypoparathyroidism type 1B, and this region is probably responsible for tissue-specific Gsα imprinting. Mouse knockout models show that Gsα and the alternative Gsα isoform XLαs that is expressed from the paternal GNAS allele may have opposite effects on energy metabolism in mice.

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