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Prenatal diagnosis of Pena-Shokeir syndrome phenotype by ultrasonography and MR imaging

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Abstract

Pena-Shokeir syndrome phenotype is characterized by neurogenic arthrogryposis, facial anomalies, polyhydramnios and lung hypoplasia. Prenatal US is crucial in showing Pena-Shokeir syndrome phenotype in addition to demonstrating reduced fetal movements or akinesia as an underlying aetiological factor as early as the 14th week of gestation. Several reports of prenatal diagnosis of Pena-Shokeir syndrome phenotype by US have been published. In this report, MRI findings providing prenatal diagnosis are presented.

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Authors and Affiliations

  1. Department of Radiology, Hacettepe University Faculty of Medicine, 06100, Sihhiye, Ankara, Turkey

    Efsun Urger Senocak, Kader Karli Oguz & Deniz Akata

  2. Department of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey

    Goknur Haliloglu

  3. Department of Obstetrics and Gynaecology, Etlik Zubeyde Hanim Woman’s Hospital, Ankara, Turkey

    Deniz Karcaaltincaba & Omer Kandemir

Authors
  1. Efsun Urger Senocak
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  2. Kader Karli Oguz
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  3. Goknur Haliloglu
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  4. Deniz Karcaaltincaba
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  5. Deniz Akata
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  6. Omer Kandemir
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Corresponding author

Correspondence to Kader Karli Oguz.

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Senocak, E.U., Oguz, K.K., Haliloglu, G. et al. Prenatal diagnosis of Pena-Shokeir syndrome phenotype by ultrasonography and MR imaging. Pediatr Radiol 39, 377–380 (2009). https://doi.org/10.1007/s00247-008-1121-5

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  • DOI: https://doi.org/10.1007/s00247-008-1121-5

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