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Research: 5p deletion with congenital diaphragmatic hernia: a case report

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Research: 5p deletion with congenital diaphragmatic hernia: a case report

J Med Case Rep

. 2022 Oct 19;16(1):390.

 doi: 10.1186/s13256-022-03579-1. https://pubmed.ncbi.nlm.nih.gov/36261840/

5p deletion with congenital diaphragmatic hernia: a case report

Tomomi Kotani 1 2Takafumi Ushida 3Noriyuki Nakamura 3Kenji Imai 3 4Yukako Iitani 3Sho Tano 3Shigenori Iwagaki 5Yuichiro Takahashi 5Miharu Ito 6Masahiro Hayakawa 6Hiroaki Kajiyama 3

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Free PMC article

Abstract

Background: 5p deletion syndrome is known as cri-du-chat syndrome, but there are no reports on congenital diaphragmatic hernia complications associated with it.

Case presentation: A 28-year-old primigravida Japanese woman was referred for 5 mm of nuchal translucency. Fetal growth restriction was found at 20 weeks, and a left-sided congenital diaphragmatic hernia was diagnosed at 24 weeks. The karyotype of the fetus was diagnosed as 46, XX, del(5)(p14) and referred to our hospital. At 36 + 6 weeks, a 1524 g female infant was delivered after premature membrane rupture, with Apgar scores of 4 and 6 at 1 and 5 minutes, respectively. The baby was intubated immediately with sedation and muscle relaxation, after birth for initial treatment for congenital diaphragmatic hernia. The peripheral blood karyotype was consistent with the prenatal result. The infant was discharged alive, without any respiratory support, after the defect of the diaphragm was repaired.

Conclusion: The results of this study may be helpful for antenatal genetic counseling.

Keywords: Congenital diaphragmatic hernia; Cri-du-chat syndrome; Prognosis.

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