Title: Visual loss as the presenting sign of Jeune syndrome
Authors: Casteels, Ingele ×
Demandt, E
Legius, Eric #
Issue Date: Jan-2001
Publisher: Saunders
Series Title: European Journal of Paediatric Neurology vol:4 issue:5 pages:243-7
Abstract: We describe a 5-year-old girl with Jeune syndrome. The presenting symptoms included visual loss and night blindness only. In the neonatal period she had surgery on both hands for bilateral polydactyly. Following clinical and radiological examination a diagnosis of Jeune syndrome was proposed. Although Jeune syndrome is often characterized by multiple organ abnormalities, our patient presented with ocular symptoms at the age of 5 years.
ISSN: 1090-3798
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Research Group Ophthalmology
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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