Cohen Syndrome, A Case Report
Year: 2024
Type: article
Study design: Case Report
Abstract: Background: Cohen syndrome is a rare genetic disorder characterized by physical, developmental, and intellectual disabilities. It is primarily considered in children presenting with microcephaly, early-onset hypotonia, neutropenia, and global developmental delay. Results: A 16-day-old female infant with low birth weight and dysmorphic features was evaluated. This case highlights the importance of considering Cohen syndrome in the differential diagnosis of infants with similar clinical findings. Early recognition allows for timely intervention and support. Conclusion: While there is no cure for Cohen syndrome, early diagnosis and management can improve quality of life.Genetic counseling is essential for affected families.
Source: Saudi Medical Horizons Journal
Institution: Royal Commission for Jubail and Yanbu
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4403401505