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Dae-Youl Lee (Lee DY)

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Case Report

Joubert syndrome with peripheral dysostosis - A case report of long term follow-up -

Jung Tae Kim, Sun Jun Kim, Chan-Uhng Joo, Soo Chul Cho, Dae-Youl Lee

Clin Exp Pediatr. 2007;50(3):315-318. Published online March 15, 2007

This report describes the long-term follow-up of a 10-year-old female patient with Joubert syndrome with short stature and brachydactyly. She presented with hyperpnea alternated with hypopnea, uncontrolled jerking eye movements, and hypotonia during early infancy. She was diagnosed with Joubert syndrome based on clinical symptoms and typical MRI findings at 5 months of age. Abnormal ventilation and eye movements disappeared...

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