Case Report of Recurrent Popliteal Pterygium Syndrome-Reference-Cited by-同舟云学术

Case Report of Recurrent Popliteal Pterygium Syndrome

Published:2024-06 Issue:02 Volume:11 Page:134-138
ISSN:2348-1153
Container-title:Journal of Fetal Medicine
language:en
Short-container-title:Journal of Fetal Medicine

Author:

Rangholiya Komal¹,Ponkiya Pruthviben K.¹^ORCID,Desai Purvi²,Chauhan Binodini¹,Patel Shimolee³

Affiliation:

1. Department of Fetal Medicine, Government Medical College, New Civil Hospital, Surat, Gujarat, India

2. Department of Radiodiagnosis, Government Medical College, New Civil Hospital, Surat, Gujarat, India

3. Surat Municipal Institute of Medical Education and Research, Surat, Gujarat, India

Abstract

AbstractA 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.

Publisher

Georg Thieme Verlag KG

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0044-1787057.pdf

Reference9 articles.

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3. Cleft lip+/-cleft palate: an overview of the literature and an analysis of Danish cases born between 1941 and 1968;M Melnick;Am J Med Genet,1980

4. Popliteal pterygium syndrome: a phenotypic and genetic analysis;V Escobar;J Med Genet,1978