Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report.

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

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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 and Raio, Luigi

Subjects:

600 Technology > 610 Medicine & health

ISSN:

2050-0904

Publisher:

Wiley

Language:

English

Submitter:

André Schaller

Date Deposited:

11 Feb 2019 14:51

Last Modified:

26 Oct 2019 20:26

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

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