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Apert syndrome: prenatal diagnosis challenge

Catarina Vieira1, Neusa Teixeira2, Alexandra Cadilhe2

  • 1Gynecology and Obstetrics, Hospital de Braga, Braga, Portugal catarina.cv.16@gmail.com.

BMJ Case Reports
|December 12, 2019
PubMed
Summary

Early ultrasound detected Apert syndrome, a genetic disorder caused by FGFR2 gene mutations. This case highlights the importance of timely diagnosis for prenatal management and genetic counseling.

Keywords:
genetic screening / counsellingpregnancyultrasonography

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