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Editor—A disorder may be prone to misdiagnosis or underdiagnosis when it is rare, has multiple presentations, a slowly evolving phenotype, or no pathognomonic test. Such would seem to be the case for Alström syndrome.1 We have recently diagnosed this disorder in seven members of six Pakistani families. In none of the affected subjects had the correct diagnosis previously been made. Instead the given diagnoses were Bardet-Biedl syndrome, Leber's amaurosis, a type of retinitis pigmentosa, sporadic dilated cardiomyopathy, an unidentified mitochondrial disorder, and Usher syndrome. This experience is not unusual since in a recent British study of Alström syndrome patients, seven of 22 had initially been incorrectly diagnosed.2
The clinical features of Alström …