Jacobsen-Brodwall Syndrome
General: Syndrome consists of inborn defect in erythropoiesi 626c27g s; dysplastic kidneys; eye lesions; malformation of the teeth; impaired hearing; etiology unknown; features of Alport, Fanconi, and Lowe syndromes do not conform with the findings in this syndrome.
Ocular: Loss of vision progressing to blindness; secondary glaucoma; vitreous opacities; cataract; macular changes; retinal hemorrhages and exudates.
Clinical: Anemia; atypical development of teeth, with caries and resorption of permanent teeth; kidney dysplasia; hearing defect.
Jacobsen CD, Brodwall EK. A Clinical syndrome with inborn defect in erythropoiesis, dysplastic kidneys, eye lesions, malformation of the teeth and impaired hearing. Acta Med Scand 1974; 195:231.
Whalen RE, et al. Hereditary nephropathy, deafness and renal foam cells. Am J Med 1961; 31:171.
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