Autosomal recessive cerebellar hypoplasia and tapeto-retinal degeneration: A new syndrome

Joseph M. Dooley; G. Robert LaRoche; Francois Tremblay; Michael Riding

doi:10.1016/0887-8994(92)90076-B

Autosomal recessive cerebellar hypoplasia and tapeto-retinal degeneration: A new syndrome

Joseph M. Dooley, G. Robert LaRoche, Francois Tremblay, Michael Riding

Medicine

Research output: Contribution to journal › Article › peer-review

16 Citations (Scopus)

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.

Original language	English
Pages (from-to)	232-234
Number of pages	3
Journal	Pediatric Neurology
Volume	8
Issue number	3
DOIs	https://doi.org/10.1016/0887-8994(92)90076-B
Publication status	Published - 1992

ASJC Scopus Subject Areas

Pediatrics, Perinatology, and Child Health
Neurology
Developmental Neuroscience
Clinical Neurology

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10.1016/0887-8994(92)90076-B

Cite this

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title = "Autosomal recessive cerebellar hypoplasia and tapeto-retinal degeneration: A new syndrome",

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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AU - Robert LaRoche, G.

AU - Tremblay, Francois

AU - Riding, Michael

PY - 1992

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AB - 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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Autosomal recessive cerebellar hypoplasia and tapeto-retinal degeneration: A new syndrome

Abstract

ASJC Scopus Subject Areas

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