Hofstaetter, Cornelia; Courage, Carolina; Bartholdi, Deborah; Biskup, Saskia; Raio, Luigi (2018). Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report. Clinical case reports, 6(2), pp. 420-425. Wiley 10.1002/ccr3.1368
|
Text
Hofstaetter_et_al-2018-Clinical_Case_Reports.pdf - Published Version Available under License Creative Commons: Attribution-Noncommercial-No Derivative Works (CC-BY-NC-ND). Download (1MB) | Preview |
We present a case of diaphanospondylodysostosis (DSD) which showed increased nuchal translucency at 1st trimester and missing ossification of the lower spine, short ribs with posterior gaps, and absent nasal bone in midtrimester. Autopsy revealed additionally bilateral nephroblastomatosis. Molecular genetic analysis showed a new mutation in the BMPER gene.
Item Type: |
Journal Article (Further Contribution) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine 04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Surgery 04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Gynaecology |
UniBE Contributor: |
Hofstaetter, Cornelia, Courage, Carolina, Bartholdi, Deborah, Raio, Luigi |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
2050-0904 |
Publisher: |
Wiley |
Language: |
English |
Submitter: |
Anette van Dorland |
Date Deposited: |
11 Feb 2019 14:51 |
Last Modified: |
05 Dec 2022 15:24 |
Publisher DOI: |
10.1002/ccr3.1368 |
PubMed ID: |
29445489 |
Uncontrolled Keywords: |
BMPER gene diaphanospondylodysostosis increased nuchal translucency missing ossification of spine prenatal diagnosis ultrasound |
BORIS DOI: |
10.7892/boris.123119 |
URI: |
https://boris.unibe.ch/id/eprint/123119 |
Actions (login required)
 |
Edit item |