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Published online by Cambridge University Press: 01 August 2014
Three sisters suffering from tapetoretinal degeneration and other eye anomalies, mental retardation, skeletal abnormalities, and unusual dermatoglyphs, are reported.
The family tree of four generations is presented which reveals the following other disorders: diabetes mellitus (2 M), rheumatoid arthritis (2 F), mental retardation (2 M), congenital heart disease (1 F). A great niece of the propositi is known to suffer from tapetoretinal degeneration, mental retardation, epilepsy, cerebellar ataxia, and deafness. One miscarriage and one infant death are also noted.
The mode of inheritance and relationship to other syndromes with tapetoretinal degeneration are briefly discussed. The chromosomal studies, relevant biochemical and other investigations, are within normal limits.