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Journal of Medical Ultrasonics
Published in: Journal of Medical Ultrasonics 2/2024

28-02-2024 | Hirsutism | Image–Obstetrics & Gynecology

Three-dimensional sonographic images of fetal hirsutism: prenatal characteristic features in cornelia de lange syndrome

Authors: Yu Yamazaki, Hitoshi Isohata, Hiroyuki Goto, Yoshihiro Yoshimura, Kyoko Hattori, Takao Shimaoka, Kazuki Sekiguchi, Yoko Onishi, Daigo Ochiai

Published in: Journal of Medical Ultrasonics | Issue 2/2024

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Excerpt

Cornelia de Lange syndrome (CdLS) is a rare congenital disease occurring at a frequency of 1 in 10,000 to 1 in 100,000 live births [1, 2]. The prenatal diagnosis of CdLS presents significant challenges [3‐5]. Here, we present three-dimensional sonographic images of fetal hirsutism, a characteristic finding in CdLS. …
Literature
1.
Clark DM, Sherer I, Deardorff MA, et al. Identification of a prenatal profile of cornelia de lange syndrome (CdLS): a review of 53 CdLS pregnancies. Am J Med Genet A. 2012;158:1848–56.CrossRef
2.
Kline AD, Moss JF, Selicorni A, et al. Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Nat Rev Genet. 2018;19:649–66.CrossRefPubMedPubMedCentral
3.
Thellier E, Levaillant JM, Roume J, et al. Cornelia de lange syndrome: specific features for prenatal diagnosis. Ultrasound Obstet Gynecol. 2017;49:668–70.CrossRefPubMed
4.
Spaggiari E, Vuillard E, Khung-Savatovsky S, et al. Ultrasound detection of eyelashes: a clue for prenatal diagnosis of Cornelia de Lange syndrome. Ultrasound Obstet Gynecol. 2013;41:341–2.CrossRefPubMed
5.
Avagliano L, Bulfamante GP, Massa V. Cornelia de Lange syndrome: to diagnose or not to diagnose in utero? Birth Defects Res. 2017;109:771–7.CrossRefPubMed
Metadata
Title
Three-dimensional sonographic images of fetal hirsutism: prenatal characteristic features in cornelia de lange syndrome
Authors
Yu Yamazaki
Hitoshi Isohata
Hiroyuki Goto
Yoshihiro Yoshimura
Kyoko Hattori
Takao Shimaoka
Kazuki Sekiguchi
Yoko Onishi
Daigo Ochiai
Publication date
28-02-2024
Publisher
Springer Nature Singapore
Published in
Journal of Medical Ultrasonics / Issue 2/2024
Print ISSN: 1346-4523
Electronic ISSN: 1613-2254
DOI
https://doi.org/10.1007/s10396-024-01410-6

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