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Case Reports
. 2021 Mar;49(3):250-253.
doi: 10.1002/jcu.22927. Epub 2020 Sep 21.

Apert syndrome: A case report of prenatal ultrasound, postmortem cranial CT, and molecular genetic analysis

Weixia Zhang  1 , Hongyuan Xue  1 , Dai Huang  1 , Yuquan Ye  1 , Xiao Chen  1
Affiliations
Case Reports

Apert syndrome: A case report of prenatal ultrasound, postmortem cranial CT, and molecular genetic analysis

Weixia Zhang et al. J Clin Ultrasound. 2021 Mar.

Abstract

Apert syndrome is characterized by craniosynostosis, mid-facial hypoplasia, and symmetric syndactyly. Prenatal diagnosis is challenging until the skull and facial anomalies become more pronounced during the third trimester. We present a case in which typical sonographic signs of Apert syndrome were observed after 23 weeks of gestation. Following termination of the pregnancy, both clinical features such as craniofacial abnormalities and syndactyly and cranial 3D-CT images showed high correlation with the previous sonographic findings. Furthermore, genetic analysis revealed a spontaneous mutation, c.755C≥G (p.S252W), in the FGFR2 gene, with this mutation implicated in the etiology of Apert syndrome.

Keywords: Apert syndrome; cranial CT; craniosynostosis; fibroblast growth factor 2; prenatal ultrasound.

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References

REFERENCES

    1. Shillito JR, Matson DD. Craniosynostosis: a review of 519 surgical patients. Pediatrics. 1968;41(4):829-853.
    1. Quintero-Rivera F, Robson CD, Riess RE, et al. Apert syndrome: what prenatal radiographic findings should prompt its consideration? Prenat Diagn. 2006;26(10):966-972.
    1. Wheaton SW. Two specimens of congenital cranial deformity in infants associated with fusion of fingers and toes. Trans Pathol Soc London. 1894;45:238.
    1. Conrady CD, Patel BC, Sharma S. Apert Syndrome. Treasure Island: StatPearls. [Internet]; 2020. https://www.ncbi.nlm.nih.gov/books/NBK518993/. Accessed August 2, 2020.
    1. Allanson JE. Germinal mosaicism in Apert syndrome. Clin Genet. 1986;29(5):429-433.

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