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Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency
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  • Zhi-yang Hu,
  • Sheng Mou Lin,
  • Meng-jie Zhu,
  • Cindy Ka-Yee CHEUNG,
  • Tao Liu,
  • Jin Zhu
Zhi-yang Hu
Shenzhen People’s Hospital
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Sheng Mou Lin
The University of Hong Kong-Shenzhen Hospital
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Meng-jie Zhu
The University of Hong Kong-Shenzhen Hospital
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Cindy Ka-Yee CHEUNG
University of Hong Kong-Shenzhen Hospital
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Tao Liu
Shenzhen People’s Hospital
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Jin Zhu
Shenzhen People’s Hospital
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Abstract

Pfeiffer syndrome (PS) is a rare autosomal dominant genetic disorder characterized by craniosynostosis, broad thumbs / toes. Here we report a case of PS type 2 with increased nuchal translucency at early trimester.

Peer review status:IN REVISION

11 Apr 2021Submitted to Clinical Case Reports
12 Apr 2021Assigned to Editor
12 Apr 2021Submission Checks Completed
27 Apr 2021Reviewer(s) Assigned
01 Jun 2021Review(s) Completed, Editorial Evaluation Pending
16 Jun 2021Editorial Decision: Revise Minor