Prenatal Diagnosis of Snijders Blok-Campeau Syndrome in a Fetus with Macrocephaly.

Female Fetus / diagnostic imaging Humans Megalencephaly / diagnostic imaging Pregnancy Prenatal Diagnosis Ultrasonography, Prenatal Exome Sequencing
Fetal brain MRI Macrocephaly Snijders Blok-Campeau syndrome Ultrasound Whole-exome sequencing

Journal

Fetal diagnosis and therapy
ISSN: 1421-9964
Titre abrégé: Fetal Diagn Ther
Pays: Switzerland
ID NLM: 9107463

Informations de publication

Date de publication:
2021
Historique:
received: 03 11 2020
accepted: 09 01 2021
pubmed: 18 5 2021
medline: 25 11 2021
entrez: 17 5 2021
Statut: ppublish

Résumé

We present the prenatal imaging and whole exomics sequencing with the newly described Snijders Blok-Campeau macrocephaly syndrome.

Identifiants

DOI: 10.1159/000514326 PMID: 34000720
pubmed: 34000720
pii: 000514326
doi: 10.1159/000514326
doi:

Types de publication

Case Reports

Langues

eng

Sous-ensembles de citation

IM

Pagination

407-410

Informations de copyright

© 2021 S. Karger AG, Basel.

Auteurs

Gustavo Malinger (G)

Division of Ultrasound in Obstetrics and Gynecology, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Sackler School of Medicine, Tel-Aviv University, Tel Aviv, Israel.

Chen Hoffmann (C)

Department of Diagnostic Imaging, The Chaim Sheba Medical Center, Sackler School of Medicine, Tel-Aviv University, Tel Hashomer, Israel.

Reuven Achiron (R)

Prenatal Diagnostic Unit, Department of Obstetrics and Gynecology, The Chaim Sheba Medical Center, Sackler School of Medicine, Tel-Aviv University, Tel Hashomer, Israel.

Michal Berkenstadt (M)

The Danek Gertner Institute of Human Genetics, The Chaim Sheba Medical Center, Sackler School of Medicine, Tel-Aviv University, Tel Hashomer, Israel.

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Classifications MeSH

questionsmedicales.fr › Structures de l'embryon › Foetus › Prenatal Diagnosis of Snijders Blok-Campeau...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Prenatal Diagnosis of Snijders Blok-Campeau...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations du système nerveux › Malformations corticales › Malformations corticales du groupe I › Mégalencéphalie › Prenatal Diagnosis of Snijders Blok-Campeau...
questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Reproduction › Grossesse › Prenatal Diagnosis of Snijders Blok-Campeau...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Techniques de diagnostic gynécologique et obstétrique › Diagnostic prénatal › Prenatal Diagnosis of Snijders Blok-Campeau...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Techniques de diagnostic gynécologique et obstétrique › Diagnostic prénatal › Échographie prénatale › Prenatal Diagnosis of Snijders Blok-Campeau...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Séquençage de l'exome › Prenatal Diagnosis of Snijders Blok-Campeau...