Autosomal recessive cerebellar hypoplasia and tapeto-retinal degeneration: a new syndrome. |
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Authors: | J M Dooley G R LaRoche F Tremblay M Riding |
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Affiliation: | Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada. |
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Abstract: | Two sisters with autosomal recessive cerebellar hypoplasia and severe nonprogressive retinal pigmentary disease are presented. This syndrome has been previously described in only 1 patient. The retinal changes may be difficult to discern and we suggest that all patients with congenital ataxia have a detailed ophthalmologic assessment, including electroretinography. |
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