Young adolescent with trisomy 13

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

doi:10.1136/bcr-2021-246514

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

Pediatrics

Reinier de Graaf Groep

Research output: Contribution to journal › Article › Academic › peer-review

3 Citations (Scopus)

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 language	English
Article number	e246514
Number of pages	4
Journal	BMJ Case Reports
Volume	15
Issue number	9
DOIs	https://doi.org/10.1136/bcr-2021-246514
Publication status	Published - 23 Sept 2022

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

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title = "Young adolescent with trisomy 13",

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.",

author = "Kramer, \{Britt C.E.\} and Abdullahi, \{Najma S.\} and \{Ten Have\}, \{Loekie C.\} and \{van den Elzen\}, \{Annette P.M.\}",

note = "Publisher Copyright: {\textcopyright} BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.",

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TY - JOUR

T1 - Young adolescent with trisomy 13

AU - Kramer, Britt C.E.

AU - Abdullahi, Najma S.

AU - Ten Have, Loekie C.

AU - van den Elzen, Annette P.M.

PY - 2022/9/23

Y1 - 2022/9/23

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/85138460007

U2 - 10.1136/bcr-2021-246514

DO - 10.1136/bcr-2021-246514

M3 - Article

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AN - SCOPUS:85138460007

SN - 1757-790X

VL - 15

JO - BMJ Case Reports

JF - BMJ Case Reports

IS - 9

M1 - e246514

ER -

Young adolescent with trisomy 13

Abstract

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