| Alström syndrome with acanthosis nigricans: a case report and literature review. | |
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MedLine Citation:
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PMID: 22303800 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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Alström syndrome (AS) is a very rare autosomal recessively inherited disorder that can lead to infantile-onset dilated cardiomyopathy, blindness, hearing impairment, obesity, diabetes, hepatic and renal dysfunction. AS is caused by mutations in the ALMS1 gene, which is located at chromosome 2p13. The life span of patients with AS rarely goes beyond an age of 40 years. There is no specific therapy for AS, but early diagnosis and intervention may moderate the progression of the disease and may improve the length and quality of the patient's life. We report a 10 year-old boy presenting with Alström Syndrome and acanthosis nigricans. |
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Authors:
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N Akdeniz; S Gunes Bilgili; S Aktar; S Yuca; O Calka; A Kilic; M Kosem |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Genetic counseling (Geneva, Switzerland) Volume: 22 ISSN: 1015-8146 ISO Abbreviation: Genet. Couns. Publication Date: 2011 |
Date Detail:
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Created Date: 2012-02-06 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9015261 Medline TA: Genet Couns Country: Switzerland |
Other Details:
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Languages: eng Pagination: 393-400 Citation Subset: IM |
Affiliation:
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Department of Dermatology, Yüzüncü Yil University Faculty of Medicine, Van, Turkey. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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