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[Heredoataxia, tapetoretinal degeneration and dysmorphosis in a boy aged 16 (author's transl)].
Klin Monbl Augenheilkd
April 1980
The authors describe a boy aged 16 presenting with a heredoataxia of Friedreichs type which began when the patient was eight and which was accompanied by a diffuse degeneration of the posterior pole of the retina developing at the same time. This syndrome is attended by dysmorphoses (slight craniofacial dysostosis and other developmental anomalies), retarded growth (height: 1 m. 36) and retardation of puberty.
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