Edoardo, Taddei; Elena, Sartori; Raio, Luigi; Andrea, Papadia (2020). Early detection of Emanuel syndrome: a case report. Case Reports in Perinatal Medicine, 10(1) de Gruyter 10.1515/crpm-2020-0049
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Objectives
Emanuel syndrome is a rare inherited syndrome, a correct in utero diagnosis allows effective management for ongoing and future pregnancies.
Case presentation
Here, we report a case of a complete non-mosaic trisomy 22, with several prenatal sonographic findings, that was diagnosed in utero at 15 weeks’ gestation and then it was confirmed with chromosomal analysis and postmortem examination.
Conclusions
Every anatomical difference should always be further investigated in order to achieve the correct diagnosis
Item Type: |
Journal Article (Further Contribution) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Gynaecology |
UniBE Contributor: |
Raio, Luigi |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
2192-8932 |
Publisher: |
de Gruyter |
Language: |
English |
Submitter: |
Monika Zehr |
Date Deposited: |
12 Jan 2021 17:48 |
Last Modified: |
05 Dec 2022 15:43 |
Publisher DOI: |
10.1515/crpm-2020-0049 |
BORIS DOI: |
10.48350/150121 |
URI: |
https://boris.unibe.ch/id/eprint/150121 |
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