Results 31 to 40 of about 2,862 (212)
Characteristic findings of alstrom syndrome with a case report
Open Journal of Clinical Diagnostics, 2013 Alstrom Syndrome is an autosomal recessive genetic disorder affecting multiple systems. The characteristic features of this syndrome are obesity, type 2 diabetes mellitus, rod-cone dystrophy, hearing loss. Developmental delay, nistagmus, dilated cardiomyopathy, hypertension, recurrent pulmonary infections, short stature, hepatic and renal failure ...
Fatma Sılan +6 more
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ALSTROM SYNDROME: A CASE REPORT
Journal of Evolution of Medical and Dental Sciences, 2015 Bangalore R. Shivakumar +2 more
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A novel variant site of Alstrom syndrome in a Chinese child: a case report. [PDF]
Transl Pediatr, 2022 Xu R, Zhou H, Fang F, Qiu L, Liu X.
europepmc +3 more sources
Whole-exome sequencing establishes a diagnosis of Alstrom syndrome: a case report. [PDF]
Transl Pediatr, 2022 Liu Z, Chen X.
europepmc +3 more sources
ALSTROM Syndrome (Cases presentation and review of literature)
International Journal of Pediatrics and Neonatal Health, 2017 Abdulaziz Al-Kaabi, Abdulaziz Al-Kaabi
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Alstrom Syndrome: Genetics and Clinical Overview [PDF]
, 2011 Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood ...
Jan D. Marshall +3 more
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Alstrom syndrome with classical findings: a rare case report of monogenic ciliopathy co-occurrence in twins. [PDF]
Ann Med Surg (Lond)Ghimire S +3 more
europepmc +2 more sources
A Rare Case of Severe Dilated Cardiomyopathy in Early Infancy
The Thoracic & Cardiovascular Surgeon Reports, 2021 We report the case of a 3-month-old girl presenting with end-stage dilated cardiomyopathy and therapy-resistant cardiogenic shock. A left ventricular assist device (LVAD) Berlin Heart EXCOR was implanted, her organs recovered, and she was listed for ...
Meike Schwendt +3 more
doaj +1 more source
Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing [PDF]
Diabetes & Metabolism Journal, 2015 BackgroundAlström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness.
Min Kyeong Kim +6 more
doaj +1 more source