title: Tapetoretinal degeneration associated with multisystem abnormalities. A case report.
abstract: 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.
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001848:Bone Diseases, Developmental / Q000175:diagnosis; D002648:Child; D004392:Dwarfism / Q000175:diagnosis; D005260:Female; D006801:Humans; D009468:Neuromuscular Diseases / Q000175:diagnosis; D009887:Ophthalmoscopy; D012162:Retinal Degeneration / Q000151:congenital* / Q000175:diagnosis