New Alström syndrome phenotypes based on the evaluation of 182 cases
JD Marshall, RT Bronson, GB Collin… - Archives of internal …, 2005 - jamanetwork.com
Background Alström syndrome is a recessively inherited genetic disorder characterized by
congenital retinal dystrophy that leads to blindness, hearing impairment, childhood obesity,
insulin resistance, and type 2 diabetes mellitus. We provide new details on cardiologic,
hepatic, gastrointestinal, urologic, pulmonary, and neurobehavioral phenotypes in Alström
syndrome and describe the histopathologic findings in 5 individuals. Methods We obtained
data on 182 patients from clinical examinations, medical record reviews, standardized …
congenital retinal dystrophy that leads to blindness, hearing impairment, childhood obesity,
insulin resistance, and type 2 diabetes mellitus. We provide new details on cardiologic,
hepatic, gastrointestinal, urologic, pulmonary, and neurobehavioral phenotypes in Alström
syndrome and describe the histopathologic findings in 5 individuals. Methods We obtained
data on 182 patients from clinical examinations, medical record reviews, standardized …