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

Hofstaetter, Cornelia; Courage, Carolina; Bartholdi, Deborah; Biskup, Saskia; Raio, Luigi

Hofstaetter, Cornelia; Courage, Carolina; Bartholdi, Deborah; Biskup, Saskia; Raio, Luigi.

Afiliação

Hofstaetter C; Department of Obstetrics & Gynecology Inselspital University of Bern Switzerland.
Courage C; Division of Human Genetics Department of Pediatrics Inselspital University of Bern Switzerland.
Bartholdi D; The Folkhälsan Institute of Genetics University of Helsinki Helsinki Finland.
Biskup S; Division of Human Genetics Department of Pediatrics Inselspital University of Bern Switzerland.
Raio L; Praxis für Humangenetik Paul-Ehrlich-Strasse 22 DE 72076 Tübingen Germany.

Clin Case Rep ; 6(2): 420-425, 2018 02.

Article em En | MEDLINE | ID: mdl-29445489

ABSTRACT

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.

Palavras-chave

BMPER gene; diaphanospondylodysostosis; increased nuchal translucency; missing ossification of spine; prenatal diagnosis; ultrasound

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2018 Tipo de documento: Article