Jacobsen Syndrome: A Case Report With Olfactory Bulb Agenesis, Severe Endocrinopathy, and Neurodevelopmental Delay

Key Points

• The case reported diverse symptoms, including olfactory bulb agenesis and neurodevelopmental delays, emphasizing complex genetic involvement.
• Key findings include an unbalanced 11;15 translocation and extensive white matter abnormalities, highlighting the disorder's complexity.
• Genetic evaluations and neuroimaging assessments may be crucial for accurate diagnosis and management of 11q deletion disorders.
• This case supports the importance of comprehensive assessments for patients presenting with symptoms of jacobsen syndrome.