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Case Reports
. 2021 Oct 25;9(10):e05001.
doi: 10.1002/ccr3.5001. eCollection 2021 Oct.

Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency

Zhi-Yang Hu  1 , Sheng-Mou Lin  2   3 , Meng-Jie Zhu  2 , Cindy Ka-Yee Cheung  2 , Tao Liu  4 , Jin Zhu  5
Affiliations
Case Reports

Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency

Zhi-Yang Hu et al. Clin Case Rep. .

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 syndrome; increased nuchal translucency; prenatal diagnosis.

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Conflict of interest statement

There is no any conflict of interest in relation to the work.

Figures

FIGURE 1
FIGURE 1
(A) Increased nuchal translucency of the fetus at 12+1 weeks of gestation. (B) Acrocephaly, protruding forehead, bilateral temporal indentation of the skull and mild ventriculomegaly. (C) Broad thumbs and great toes found by prenatal ultrasound
FIGURE 2
FIGURE 2
Thoracic spine lordosis and narrow, vertebral fusion, sacrococcygeal eversion found by prenatal ultrasound (A) and postnatal 3D CT (B)
FIGURE 3
FIGURE 3
Postmortem examination. (A) Frontal view, showing the typical cloverleaf head, hyertelorism, and contractures of multiple joints. (B) Lateral view, showing the low‐set posteriorly rotated ear, midface hypoplasia, proptosis. (C‐D) Abducted broad thumb. (E) Broad great toes of feet and overriding toes of the left foot
See this image and copyright information in PMC

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