{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:38:37Z","timestamp":1787027917643,"version":"build-2736575974"},"reference-count":10,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"The Thailand Research Fund, grant number","award":["DPG-6280003"],"award-info":[{"award-number":["DPG-6280003"]}]},{"name":"Chiang Mai University Research Fund","award":["CMU-2564"],"award-info":[{"award-number":["CMU-2564"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Popliteal pterygium syndrome (PPS) is an extremely rare autosomal dominant disorder, characterized by the cleft palate with or without cleft lip, limbs abnormalities with highly characteristic features of popliteal webbing, syndactyly, and genital abnormalities and nail anomalies. Prenatal diagnosis of PPS has been extremely rare. We describe a unique case of fetal PPS at 20 weeks of gestation. The diagnosis of PPS was based on the ultrasound findings of bilateral popliteal webbings, extending from posterior aspects of the upper thighs through the lower legs, resulting in restriction in knee extension, bilateral equinovarus feet with syndactyly, ambiguous genitalia and the grooved lip. Anatomical structures were otherwise normal. Trio whole-exome sequencing revealed a de novo heterozygous IRF6 gene mutation in the fetus, confirming the diagnosis with PPS. In conclusion, popliteal webbing or combination of facial cleft or cleft variants and bilateral abnormal postures of the lower limbs is suggestive of PPS and genetic diagnosis should be warranted.<\/jats:p>","DOI":"10.3390\/diagnostics11101819","type":"journal-article","created":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T10:55:40Z","timestamp":1633085740000},"page":"1819","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Prenatal Sonographic and Molecular Genetic Diagnosis of Popliteal Pterygium Syndrome"],"prefix":"10.3390","volume":"11","author":[{"given":"Kuntharee","family":"Traisrisilp","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4838-175X","authenticated-orcid":false,"given":"Suchaya","family":"Luewan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sirinart","family":"Sirilert","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phudit","family":"Jatavan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3389-6478","authenticated-orcid":false,"given":"Theera","family":"Tongsong","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2535","DOI":"10.1002\/ajmg.a.36133","article-title":"Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes","volume":"161","author":"Leslie","year":"2013","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_2","unstructured":"Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Mirzaa, G., and Amemiya, A. (1993). IRF6-Related Disorders. GeneReviews\u00ae, University of Washington."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1542\/peds.41.2.503","article-title":"Popliteal pterygium syndrome. A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies","volume":"41","author":"Gorlin","year":"1968","journal-title":"Pediatrics"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1002\/ajmg.1320060108","article-title":"Cleft lip+\/-cleft palate: An overview of the literature and an analysis of Danish cases born between 1941 and 1968","volume":"6","author":"Melnick","year":"1980","journal-title":"Am. J. Med. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1136\/jmg.15.1.35","article-title":"Popliteal pterygium syndrome: A phenotypic and genetic analysis","volume":"15","author":"Escobar","year":"1978","journal-title":"J. Med. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1741","DOI":"10.1007\/s00431-014-2453-9","article-title":"Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome","volume":"173","author":"Posey","year":"2014","journal-title":"Eur. J. Pediatr."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1002\/1097-0223(200006)20:6<501::AID-PD862>3.0.CO;2-X","article-title":"Prenatal ultrasonographic diagnosis of the popliteal pterygium syndrome","volume":"20","author":"Perrotin","year":"2000","journal-title":"Prenat. Diagn."},{"key":"ref_8","first-page":"5","article-title":"Popliteal pterygium syndrome: A rare entity","volume":"3","author":"Qasim","year":"2012","journal-title":"APSP J. Case Rep."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1434","DOI":"10.1097\/SCS.0000000000004698","article-title":"Van der Woude and Popliteal Pterygium Syndromes","volume":"29","author":"Bennun","year":"2018","journal-title":"J. Craniofacial Surg."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"2404","DOI":"10.1002\/ajmg.a.37791","article-title":"Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6","volume":"170","author":"Busche","year":"2016","journal-title":"Am. J. Med. Genet. 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