Publication
Title
Abnormal fetal ultrasound leading to the diagnosis of ADNP syndrome
Author
Abstract
ADNP syndrome, also known as the Helsmoortel-Van der Aa syndrome (HVDAS), is a neurodevelopmental disorder characterized by hypotonia, developmental delay, and intellectual disability. Diagnosis is typically made postnatally, and little is known about prenatal presentation of the disorder. We report a child who presented with intrauterine growth restriction, proportionate microcephaly, and an abnormal skull shape on fetal ultrasound. Whole exome sequencing performed on amniotic fluid cells showed a de novo pathogenic variant in the ADNP gene, corresponding to a diagnosis of ADNP syndrome.
Language
English
Source (journal)
European journal of medical genetics. - Paris
Publication
Paris : 2023
ISSN
1769-7212
DOI
10.1016/J.EJMG.2023.104855
Volume/pages
66 :11 (2023) , p. 1-4
Article Reference
104855
ISI
001087092000001
Pubmed ID
37758165
Full text (Publisher's DOI)
Full text (open access)
The author-created version that incorporates referee comments and is the accepted for publication version Available from 01.04.2024
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identifier
Creation 04.12.2023
Last edited 02.02.2024
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