Young adolescent with trisomy 13

Britt C.E. Kramer, Najma S. Abdullahi, Loekie C. Ten Have, Annette P.M. van den Elzen*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

A young adolescent girl with trisomy 13 was admitted twice to the paediatric department: the first time because of haematocolpos due to uterus didelphys and unilateral transverse vaginal septum, and the second time because of heart failure due to ruptured sinus of Valsalva aneurysm. As a consequence of the historical early high mortality rate in trisomy 13, we are not aware of known complications in older patients. With better survival nowadays through childhood, we advise structural ultrasonographic cardiac and female genital screening in trisomy 13 patients reaching adolescent age.

Original languageEnglish
Article numbere246514
Number of pages4
JournalBMJ Case Reports
Volume15
Issue number9
DOIs
Publication statusPublished - 23 Sept 2022

Bibliographical note

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© BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.

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