P851: Prenatal diagnosis of Snijders Blok-Campeau syndrome in a fetus with Dandy Walker malformation

The patient and her partner underwent extensive counseling with Maternal Fetal Medicine, Clinical Genomics and Pediatric Neurology. Discussed range of potential neurologic impairment with Dandy-Walker malformation, including ataxia, cognitive impairment, seizures and increased chance of childhood mortality.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.103220
Primary Topic
Fetal and Pediatric Neurological Disorders
Type
article
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0.00
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article

P851: Prenatal diagnosis of Snijders Blok-Campeau syndrome in a fetus with Dandy Walker malformation

Karina Pone, Mauro Schenone, M Patterson, Paige Ridder
1 links
Genetics in Medicine Open
Fetal and Pediatric Neurological Disorders
article

P851: Prenatal diagnosis of Snijders Blok-Campeau syndrome in a fetus with Dandy Walker malformation

Karina Pone, Mauro Schenone, M Patterson, Paige Ridder
article en

Abstract

The patient and her partner underwent extensive counseling with Maternal Fetal Medicine, Clinical Genomics and Pediatric Neurology. Discussed range of potential neurologic impairment with Dandy-Walker malformation, including ataxia, cognitive impairment, seizures and increased chance of childhood mortality.

Genetics in Medicine OpenVol. 3
WinnMed (US)
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Openalex Percentile: Top 93%
Fetal and Pediatric Neurological Disorders
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P851: Prenatal diagnosis of Snijders Blok-Campeau syndrome in a fetus with Dandy Walker malformation — Karina Pone, Mauro Schenone, et al. · Genetics in Medicine Open (2025) | TGRS Research Map | TGRS