Tapetoretinal degeneration associated with multisystem abnormalities. A case report

Tapetoretinal degeneration is not infrequently associated with other systemic abnormalities. The authors have examined an 11-year-old girl with severe pigmentary degeneration of the retina associated with severe musculoskeletal abnormalities, growth failure, recurrent respiratory problems, sensorine...

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Published inOphthalmic paediatrics and genetics Vol. 7; no. 3; p. 151
Main Authors Liberfarb, R M, Katsumi, O, Fleischnick, E, Shapiro, F, Hirose, T
Format Journal Article
LanguageEnglish
Published Netherlands 1986
Subjects
Abnormalities, Multiple - diagnosis
Bone Diseases, Developmental - diagnosis
Child
Dwarfism - diagnosis
Female
Humans
Neuromuscular Diseases - diagnosis
Ophthalmoscopy
Retinal Degeneration - congenital
Retinal Degeneration - diagnosis
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Summary:Tapetoretinal degeneration is not infrequently associated with other systemic abnormalities. The authors have examined an 11-year-old girl with severe pigmentary degeneration of the retina associated with severe musculoskeletal abnormalities, growth failure, recurrent respiratory problems, sensorineural hearing loss, and mental retardation. To the best of their knowledge, this constellation of features has not been described previously and probably represents a new clinical entity.
ISSN:0167-6784
DOI:10.3109/13816818609004132