ArticleDiagnostics (Basel, Switzerland)2021
Prenatal Sonographic and Molecular Genetic Diagnosis of Popliteal Pterygium Syndrome.
Article in Diagnostics (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 2 citations in OpenAlex.
- Orthopedic Surgical Management of Complicated Congenital Popliteal Pterygium Syndrome: A Case Report.Orthopedic research and reviews · 2023Article
- Identification ofDiagnostics (Basel, Switzerland) · 2022Article
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5 authors at 1 institution in 1 country.
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Abstract
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
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