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Andersen syndrome autosomal dominant in three generations.

Andersen syndrome is a rare entity and comprises potassium sensitive periodic paralysis, ventricular arrhythmia, and an unusual facial appearance; syncope and sudden death have also been reported. The recognition of the characteristic face permits an early diagnosis in order to detect the severe systemic manifestations that are associated with this syndrome. The genetic defect is not linked to any other form of potassium sensitive periodic paralysis nor is it related to that of the long QT syndrome; nevertheless, a prolonged QT interval can be detected in a significant proportion of the cases. Sixteen cases of this syndrome have been described. We report on a three-generation family with 10 affected members. To our knowledge, this is the largest number of cases reported in one family. We noted some additional minor anomalies such as broad forehead and malar hypoplasia. Our patients had variable expression in the classical triad and of the severity of the systemic manifestations. Five of 8 affected studied members did not have a long QTc, which has been suggested as a constant finding in this syndrome.