[Trisomy 18 or Edwards' syndrome. A report of 4 clinical cases]

Area of Science:

• Pediatric Medicine
• Clinical Genetics

Background:

• Trisomy 18 (Edwards' syndrome) is a genetic disorder caused by the presence of all or part of a third copy of chromosome 18.
• It is a severe condition that affects multiple organs and can lead to significant developmental delays.

Observation:

• Four cases of trisomy 18 were identified between 1979 and 1988.
• Cases included three males and one female.
• Observations were made at the Pediatric Division of SS. Annunziata Hospital.

Findings:

• Detailed case descriptions are provided, including clinical manifestations.
• Epidemiological data and clinical aspects of trisomy 18 are discussed.
• The study highlights the occurrence of Edwards' syndrome in a specific pediatric population over a decade.

Implications:

• Contributes to the understanding of trisomy 18 prevalence and presentation.
• Informs clinical management and genetic counseling for Edwards' syndrome.
• Highlights the importance of detailed case reporting in rare genetic disorders.