Wolfram syndrome. A report of four cases and review of the literature.
This is a report of four new cases of Wolfram syndrome in three families and a review of the literature. The ophthalmologic, urologic, otologic, psychiatric and endocrine findings of the syndrome are discussed as well as their pathophysiology. Two recent reports with features atypical of the Wolfram syndrome are discussed. The genetics of this syndrome are also discussed.
Pédiatrie Génétique, Hôpital Jean Verdier, Bondy, France.
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D000293:Adolescent; D000328:Adult; D001927:Brain Diseases / Q000473:pathology; D003919:Diabetes Insipidus / Q000473:pathology; D005260:Female; D006316:Hearing Loss, High-Frequency / Q000473:pathology; D006801:Humans; D008297:Male; D009896:Optic Atrophy / Q000473:pathology; D014513:Ureter / Q000002:abnormalities; D014786:Vision Disorders / Q000473:pathology; D014929:Wolfram Syndrome / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology