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CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2024; 11(02): 134-138
DOI: 10.1055/s-0044-1787057
Case Report

Case Report of Recurrent Popliteal Pterygium Syndrome

Komal Rangholiya
1   Department of Fetal Medicine, Government Medical College, New Civil Hospital, Surat, Gujarat, India
,
Pruthviben K. Ponkiya 
1   Department of Fetal Medicine, Government Medical College, New Civil Hospital, Surat, Gujarat, India
,
Purvi Desai
2   Department of Radiodiagnosis, Government Medical College, New Civil Hospital, Surat, Gujarat, India
,
Binodini Chauhan
1   Department of Fetal Medicine, Government Medical College, New Civil Hospital, Surat, Gujarat, India
,
Shimolee Patel
3   Surat Municipal Institute of Medical Education and Research, Surat, Gujarat, India
› Author Affiliations Funding None.
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Abstract

A 23 week pregnant woman with a history of a child with facial and limb malformations underwent a fetal ultrasound revealing similar abnormalities in the current fetus. Genetic testing confirmed a new IRF6 gene mutation consistent with popliteal pterygium syndrome type 1. This case highlights the potential for recurrence and the role of genetic testing in prenatal diagnosis.

Keywords

cleft lip and palate - popliteal pterygium syndrome - popliteal webbing - prenatal diagnosis - recurrent popliteal pterygium

Informed Consent

Appropriate written informed was consent taken from the patient for this study.




Publication History

Article published online:
03 June 2024

© 2024. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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