[Heredoataxia, tapetoretinal degeneration and dysmorphosis in a boy aged 16 (author's transl)]

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. The authors advance the hypothesis that a recessive pleiotropic gene is responsible for both the neuroretinal syndrome and the dysmorphosis and quote the literature referring to this problem.