Family studies in tuberous sclerosis. evaluation of apparently unaffected parents

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Abstract
A family study was conducted to evaluate the apparently unaffected parents of 13 patients with tuberous sclerosis. None of the parents had a personal or family history suggesting the diagnosis of tuberous sclerosis. All 26 parents were examined according to a protocol that entailed medical history, physical examination (including Wood''s lamp examination of the skin), funduscopic examination through a dilated pupil, roentgenograms of the hands, feet and skull, renal ultrasound studies and cranial computed tomography (CT). In these 13 families, 3 fathers and 1 mother had previously undiagnosed tuberous sclerosis. Of the 4, 3 had skin changes, 3 had calcifications shown by CT and 1 had renal cysts. Detailed examination of all parents of patients with tuberous sclerosis should occur before recurrence-risk counseling is given.

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