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[Trisomy 18 (Edwards syndrome): two case reports].

P Morosini¹, C Verdura, F Paolillo

¹Divisione di Patologia Neonatale, Ospedale Maggiore di Lodi Mi, Italia.

La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics

|January 1, 1992

Summary

Edwards (trisomy 18) syndrome typically has short survival. This report details two cases, one with typical short survival and another with long survival, highlighting the impact of comprehensive support for trisomy 18 without mosaicism.

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Area of Science:

Genetics
Pediatrics
Medical Science

Background:

Edwards (trisomy 18) syndrome affects approximately 1 in 8000 births.
The condition is generally characterized by limited survival rates.
Long-term survival is exceptionally rare and often associated with chromosomal mosaicism.

Observation:

Two cases of Edwards syndrome with divergent outcomes are presented.
The first case exhibited a typical, short-term survival trajectory.
The second case demonstrated long-term survival, defying typical prognosis.

Findings:

The long-term survival case appears to be a non-mosaic trisomy 18.
This case underscores the potential impact of integrated support systems.
Comprehensive biological, psychological, and social interventions were crucial for the long-term survivor.

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Implications:

This study suggests that comprehensive support can significantly alter outcomes in trisomy 18.
It highlights the importance of individualized care plans for rare genetic conditions.
Further research into the factors influencing long-term survival in trisomy 18 is warranted.