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Author Quist, Sven R. ♦ Franke, Ingolf ♦ Hiort, Olaf ♦ Gollnick, Harald P. ♦ Leverkus, Martin
Source World Health Organization (WHO)-Global Index Medicus
Content type Text
Publisher Wiley-Blackwell
File Format HTM / HTML
Language English
Difficulty Level Medium
Subject Domain (in DDC) Natural sciences & mathematics ♦ Life sciences; biology ♦ Natural history of organisms ♦ Technology ♦ Medicine & health ♦ Diseases
Subject Domain (in MeSH) Eukaryota ♦ Organisms ♦ Nervous System Diseases ♦ Skin and Connective Tissue Diseases ♦ Nutritional and Metabolic Diseases ♦ Pathological Conditions, Signs and Symptoms ♦ Diseases ♦ Persons ♦ Persons
Subject Keyword Discipline Dermatology ♦ Calcinosis ♦ Diagnosis ♦ Erythema ♦ Intellectual Disability ♦ Female ♦ Humans ♦ Middle Aged ♦ Syndrome ♦ Case Reports ♦ Journal Article
Abstract Albright hereditary osteodystrophy (AHO), also known as Martin-Albright syndrome (MAS), is a rare autosomal dominantly transmitted disease characterized by short stature, obesity, mental retardation, a round facies, and brachymetacarpia and -tarsia, as well as cutaneous calcification. The disease is caused by mutations in the GNAS gene localized on chromosome 20q13.2 encoding for an adenyl-cyclase-stimulating protein (Gsalpha). A 58-year-old patient presented with small stature since childhood, moderate mental retardation, round facies and soft tissue masses on the thighs. A biopsy of the latter showed subcutaneous ossification. Laboratory results showed hypocalcemia, as well as increased plasma levels of PTH and calcitonin. The clinical diagnosis was confirmed by detection of reduced activity of Gsalpha. In patients with cutaneous calcification and disturbed calcium metabolism, AHO is an important differential diagnostic consideration.
Description Country affiliation: Germany
Author Affiliation: Quist SR ( Department of Dermatology and Venereology, Otto-von-Guericke University of Magdeburg, Magdeburg, Germany.
ISSN 16100379
Educational Role Student ♦ Teacher
Age Range above 22 year
Educational Use Reading ♦ Research ♦ Self Learning
Interactivity Type Expositive
Education Level UG and PG
Learning Resource Type Case study ♦ Article
Publisher Date 2009-01-01
Publisher Place Germany
e-ISSN 16100387
Journal Journal der Deutschen Dermatologischen Gesellschaft
Volume Number 7
Issue Number 1

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Source: WHO-Global Index Medicus