RSS-Feed abonnieren
PDF herunterladen
DOI: 10.1055/s-0044-1787057
Case Report of Recurrent Popliteal Pterygium Syndrome
Funding None.
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 pterygiumInformed Consent
Appropriate written informed was consent taken from the patient for this study.
Publikationsverlauf
Artikel online veröffentlicht:
03. Juni 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/)
Thieme Medical and Scientific Publishers Pvt. Ltd.
A-12, 2nd Floor, Sector 2, Noida-201301 UP, India
-
References
- 1 Leslie EJ, Mancuso JL, Schutte BC. et al. Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes. Am J Med Genet A 2013; 161A (10) 2535-2544
- 2 Schutte BC, Saal HM, Goudy S, Leslie EJ. IRF6-related disorders. In: Adam MP, Ardinger HH, Pagon RA. et al, eds. GeneReviews. Seattle, WA: University of Washington; 1993
- 3 Gorlin RJ, Sedano HO, Cervenka J. Popliteal pterygium syndrome. A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies. Pediatrics 1968; 41 (02) 503-509
- 4 Melnick M, Bixler D, Fogh-Andersen P, Conneally PM. Cleft lip+/-cleft palate: an overview of the literature and an analysis of Danish cases born between 1941 and 1968. Am J Med Genet 1980; 6 (01) 83-97
- 5 Escobar V, Weaver D. Popliteal pterygium syndrome: a phenotypic and genetic analysis. J Med Genet 1978; 15 (01) 35-42
- 6 Perrotin F, Haddad G, Guichet A, Paillet C, Moraine C, Body G. Prenatal ultrasonographic diagnosis of the popliteal pterygium syndrome. Prenat Diagn 2000; 20 (06) 501-504
- 7 Posey JE, Dariya V, Edmonds JL, Lee EI, Probst FJ, Premkumar MH. Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome. Eur J Pediatr 2014; 173 (12) 1741-1744
- 8 Bennun RD, Stefano E, Moggi LE. Van der Woude and popliteal pterygium syndromes. J Craniofac Surg 2018; 29 (06) 1434-1436
- 9 Cheng C, Fei Z, Xiao P. Methods to improve the accuracy of next-generation sequencing. Front Bioeng Biotechnol 2023; 11: 982111