Cohen Syndrome, A Case Report

Authors

  • Wadah Faisal Elmihana Consultant Neonatologist, Royal Commission Hospital, Jubail, KSA.
  • Abdullah Thamir Alshahrani Neonatology Consultant, Royal Commission Health Services Program In Jubail, Jubail, KSA. https://orcid.org/0009-0002-8058-6891
  • Ahmed Saadan Neonatology Specialist, Royal Commission Hospital, Jubail, KSA https://orcid.org/0009-0002-6242-0548
  • Basamat Eltayeb Neonatology Specialist, Royal Commission Hospital, Jubail, KSA.
  • Tabseem Goma Neonatology Resident, Royal Commission Hospital, Jubail, KSA. https://orcid.org/0009-0004-2908-5092
  • Abdulrahman Osman Neonatology Specialist, Royal Commission Hospital, Jubail, KSA.
  • Abubakr Abdelrazig Neonatology Resident, Royal Commission Hospital, Jubail, KSA.
  • Arif Jamil Neonatology Specialist, Royal Commission Hospital, Jubail, KSA.

DOI:

https://doi.org/10.54293/smhj.v4i3.117

Keywords:

Keywords: Cohen syndrome, genetic disorders, developmental delay

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.

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Published

2024-10-14

How to Cite

1.
Faisal Elmihana W, Thamir Alshahrani A, Ahmed Saadan, Basamat Eltayeb, Tabseem Goma, Abdulrahman Osman, Abubakr Abdelrazig, Arif Jamil. Cohen Syndrome, A Case Report. SMHJ [Internet]. 2024 Oct. 14 [cited 2024 Dec. 6];4(3):211-4. Available from: https://smh-j.com/smhj/article/view/117

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Section

Case Report