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Department of Pediatrics, Faculty of Medicine, Aksaray University , Aksaray , Turkey
Department of Pediatrics, Aksaray Training and Research Hospital , Aksaray , Turkey
Introduction: Nizon-Isodir syndrome (NIS) is a rare genetic disorder associated with mutations in MED12L gene and usually presents with characteristics facial apperance, neurodevelopment delay, autisim spectrum disorders (ASD) and chronic gastrointestinal symptoms (GIS). Case Report: In this case report, we emphasize the importance of early evaluation of genetic tests and diseases with Nizon-Isodir syndrome in our patient, who had characteristic facial findings, ongoing GI symptoms since birth, diagnosed with ASD at the age of 2, and diagnosed with Nizon-Isodir at a late stage (age 4) in an 8-year-old girl. Conclusion: In particular, it has been demonstrated once again that early application of genetic testing in patients with similar clinical features plays a critical role in reaching the correct diagnosis and treatment planning. These findings indicate the importance of a multidisciplinary approach in the recognition of rare syndromes of genetic origin.
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