Pena-Shokeir syndrome is a rare autosomal recessive disease, characterized by facial anomalies, arthrogryposis, polyhydramnios, fetal growth restriction, and pulmonary hypoplasia. This report describes the findings of this anomaly with two and three-dimensional ultrasound in a female in her 28(th) week of pregnancy, who was referred to us because the fetus presented arthrogryposis of unknown cause. These imaging methods allowed adequate evaluation of the fetal malformations and also enabled appropriate counseling of the couple.
Ghazalla K Ajali, Hamed Orafi and Hamed Orafi (2018) Case report and review of literature of an infant with Pena-Shokeir syndrome. JDHODT9(3):. doi: 10.15406/jdhodt.2018.09.00363
Amy Bildner and Daniel Jackson (2018) Prenatal Sonographic Detection of Multiple Congenital Anomalies: A Case of Severe Arthrogryposis Multiplex Congenita (AMC). Journal of Diagnostic Medical Sonography34(2):138. doi: 10.1177/8756479317743208
Edward Araujo Júnior, Eduardo Felix Martins Santana, Gabriele Tonni, Amy E. Wong and Waldo Sepulveda (2017) Prenatal Diagnosis of Orofacial Malformations. (Chapter 7):105. doi: 10.1007/978-3-319-32516-3_7
Astrid Hellmund, Christoph Berg, Annegret Geipel, Annette Müller and Ulrich Gembruch (2016) Prenatal diagnosis of fetal akinesia deformation sequence (FADS): a study of 79 consecutive cases. Arch Gynecol Obstet294(4):697. doi: 10.1007/s00404-016-4017-x
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