EP07.48: A very rare association of Turner syndrome with Dandy‐Walker malformation

We present a case of a pregnancy complicated by multiple fetal abnormalities, cystic hygroma, hypoplastic aortic arch, short limbs, bilateral talipes, and Dandy-Walker malformation. The baby became hydropic and subsequently the intrauterine demise was diagnosed at 21+5w gestation. The patient declined prenatal invasive diagnostic tests, however postmortem examination confirmed the ultrasound finding of Dandy-Walker malformation and the karyotype was confirmed as a monosomy X (Turner`s syndrome). A Dandy-Walker malformation is an unusual finding in Turner's syndrome. This is just the second case report that we found in the literature. In conclusion, we should consider a Turner's syndrome as a possible cause for a Dandy-Walker malformation. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

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Publication Details

Journal
Ultrasound in Obstetrics and Gynecology
Published
2024-09-01
DOI
https://doi.org/10.1002/uog.28296
Primary Topic
Fetal and Pediatric Neurological Disorders
Type
article
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article

EP07.48: A very rare association of Turner syndrome with Dandy‐Walker malformation

B.B. Heim, M. Heim
Ultrasound in Obstetrics and Gynecology
Fetal and Pediatric Neurological Disorders
article

EP07.48: A very rare association of Turner syndrome with Dandy‐Walker malformation

B.B. Heim, M. Heim
article en

Abstract

We present a case of a pregnancy complicated by multiple fetal abnormalities, cystic hygroma, hypoplastic aortic arch, short limbs, bilateral talipes, and Dandy-Walker malformation. The baby became hydropic and subsequently the intrauterine demise was diagnosed at 21+5w gestation. The patient declined prenatal invasive diagnostic tests, however postmortem examination confirmed the ultrasound finding of Dandy-Walker malformation and the karyotype was confirmed as a monosomy X (Turner`s syndrome). A Dandy-Walker malformation is an unusual finding in Turner's syndrome. This is just the second case report that we found in the literature. In conclusion, we should consider a Turner's syndrome as a possible cause for a Dandy-Walker malformation. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Ultrasound in Obstetrics and GynecologyVol. 64(S1)
University of Dundee (GB), Princess Royal Maternity Hospital (GB)
Zero hunger
Openalex Percentile: Top 76%
Fetal and Pediatric Neurological Disorders
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EP07.48: A very rare association of Turner syndrome with Dandy‐Walker malformation — B.B. Heim, M. Heim · Ultrasound in Obstetrics and Gynecology (2024) | TGRS Research Map | TGRS