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Three-dimensional sonographic features of a fetus with Wolf-Hirschhorn syndrome

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Abstract

We present a case of fetal Wolf-Hirschhorn syndrome diagnosed by conventional two-dimensional and three-dimensional ultrasonography. Conventional two-dimensional ultrasonography revealed a diaphragmatic hernia, nuchal edema, and suspected hypospadias. Three-dimensional ultrasonography clearly showed a flattening of the face, a high forehead, a broad nasal bridge continuing to the forehead, exophthalmos, and micrognathia (resembling the appearance of a Greek warrior helmet), but conventional two-dimensional ultrasonography did not depict these findings. Prenatal chromosomal analysis confirmed the diagnosis of Wolf-Hirschhorn syndrome [46XY, del(4)(p15.2)]. Here we demonstrate how three-dimensional ultrasonography provided a novel visual depiction of the facial dysmorphism, which helped substantially in prenatal counseling.

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Authors and Affiliations

  1. Department of Perinatology and Gynecology, Kagawa University School of Medicine, 1750-1 Ikenobe, Miki, Kagawa, 761-0793, Japan

    Tharangrut Hanprasertpong, Uiko Hanaoka, Xia Zhang, Nobuhiro Mori, Eisuke Inubashiri, Kenji Kanenishi, Chizu Yamashiro, Hirokazu Tanaka, Atsuko Shiota, Toshihiro Yanagihara & Toshiyuki Hata

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  1. Tharangrut Hanprasertpong
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  2. Uiko Hanaoka
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  3. Xia Zhang
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  4. Nobuhiro Mori
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  5. Eisuke Inubashiri
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  6. Kenji Kanenishi
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  7. Chizu Yamashiro
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  8. Hirokazu Tanaka
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  9. Atsuko Shiota
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  10. Toshihiro Yanagihara
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  11. Toshiyuki Hata
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Correspondence to Toshiyuki Hata.

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Hanprasertpong, T., Hanaoka, U., Zhang, X. et al. Three-dimensional sonographic features of a fetus with Wolf-Hirschhorn syndrome. J Med Ultrasonics 35, 197–199 (2008). https://doi.org/10.1007/s10396-008-0182-2

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  • DOI: https://doi.org/10.1007/s10396-008-0182-2

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