[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.
D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D003394:Craniofacial Dysostosis / Q000150:complications; D005621:Friedreich Ataxia / Q000150:complications* / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D012162:Retinal Degeneration / Q000150:complications* / Q000235:genetics / Q000473:pathology
Hérédoataxie, dégénérescence tapéto-rétinienne et signes dysmorphiques chez un garçon de 16 ans.