Cohen Syndrome, A Case Report

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.

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Publication Details

Journal
Saudi Medical Horizons Journal
Published
2024-10-14
DOI
https://doi.org/10.54293/smhj.v4i3.117
Citations
1
Primary Topic
Blood disorders and treatments
Type
article
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article

Cohen Syndrome, A Case Report

Wadah Faisal Elmihana, Abdullah Thamir Alshahrani, Ahmed Saadan, Basamat Eltayeb et al.
1 citations
Saudi Medical Horizons Journal
Blood disorders and treatments
article

Cohen Syndrome, A Case Report

Wadah Faisal Elmihana, Abdullah Thamir Alshahrani, Ahmed Saadan, Basamat Eltayeb, Tabseem Goma, Abdulrahman Osman, Abubakr Abdelrazig, Arif Jamil
article en
1 citations

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.

Saudi Medical Horizons JournalVol. 4(3)
Royal Commission for Jubail and Yanbu (SA)
Quality Education
Openalex Percentile: Top 80%
Blood disorders and treatments
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