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Young adolescent with trisomy 13
  1. Britt C E Kramer1,
  2. Najma S Abdullahi2,
  3. Loekie C ten Have1 and
  4. Annette P M van den Elzen1
  1. 1Pediatrics, Reinier de Graaf Gasthuis, Delft, The Netherlands
  2. 2Pediatrics, Erasmus MC, Sophia Childrens Hospital, Rotterdam, The Netherlands
  1. Correspondence to Dr Annette P M van den Elzen; a.vandenelzen{at}rdgg.nl

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.

  • Cardiovascular medicine
  • Obstetrics and gynaecology
  • Paediatrics
  • Congenital disorders
  • Developmental paediatrocs

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Footnotes

  • Contributors NSA initiated this case report after being involved during the patients first admission. BCEK then finished the case report after she was involved in the second admission. APMvdE supervised and revised the entire process from beginning to end. LLCtH was the patient’s primary pediatrician and was able to provide additional information in this way. BCEK and APMvdE performed the latest revisions and the submission to the BMJ.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.