Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report.
Clin Case Rep
; 6(2): 420-425, 2018 02.
Article
em En
| MEDLINE
| ID: mdl-29445489
ABSTRACT
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.
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1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Diagnostic_studies
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article