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Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency

Zhi-Yang Hu1, Sheng-Mou Lin2,3, Meng-Jie Zhu2

  • 1Department of Obstetrics Shenzhen People's Hospital Shenzhen China.

Clinical Case Reports
|November 1, 2021
PubMed

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 in early trimester.

Keywords:
Pfeiffer syndromeincreased nuchal translucencyprenatal diagnosis

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