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Published on: December 6, 2016
Sleep-Disordered Breathing in Chung-Jansen Syndrome
Katerina Vlami1, Konstantina Kosma2, Lamprini Athanasopoulou1
12nd Pulmonary Medicine Department, Medical School, General University Hospital "Attikon", National and Kapodistrian University of Athens, Rimini 1 Str., 12462 Haidari, Greece.
Chung-Jansen Syndrome, a rare neurodevelopmental disorder, can cause severe obstructive sleep apnea (OSA). This case confirms OSA via polysomnography in an adult, highlighting the need for genetic testing and OSA screening in affected individuals.
Area of Science:
- Genetics
- Neurology
- Sleep Medicine
Background:
- Chung-Jansen Syndrome (CJS) is a rare neurodevelopmental disorder associated with intellectual disability, behavioral issues, dysmorphism, and obesity.
- Sleep disturbances are frequently reported in CJS, but systematic evaluation of sleep-disordered breathing is limited.
- The pleckstrin homology domain interacting protein (PHIP) gene is implicated in CJS, affecting pathways related to satiety and body weight.
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