Citation, DOI, disclosures and article data
Citation:
Campos A, Smith H, Murphy A, et al. Pena-Shokeir syndrome. Reference article, Radiopaedia.org (Accessed on 21 Feb 2025) https://doi.org/10.53347/rID-12452
The Pena-Shokeir syndrome (PSS) is an autosomal recessive nonaneuploidic condition with some clinical features being similar to that of trisomy 18. The condition is most often lethal.
The estimated incidence is at ~1 in 12,000 births.
Features include 2,4:
Some consider the syndrome to be of two distinct types:
Associations
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Ultrasound
May show many of the above features. Some sonographic features may be detected as early as 16-18 weeks 8.
Treatment and prognosis
The prognosis is very poor with ~30% of cases being stillborn, and another ~40% not surviving past the first few weeks and with the remainder not surviving beyond a few months. There may be a recurrence rate of ~10-15% for future pregnancies.
History and etymology
It was initially described by S D J Pena and M H K Shokeir in 1974 9.
General differential considerations include 8:
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1. Bromley B & Benacerraf B. Abnormalities of the Hands and Feet in the Fetus: Sonographic Findings. AJR Am J Roentgenol. 1995;165(5):1239-43. doi:10.2214/ajr.165.5.7572511 - Pubmed
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3. Persutte WH, Lenke RR, Kurczynski TW et-al. Antenatal diagnosis of Pena-Shokeir syndrome (type I) with ultrasonography and magnetic resonance imaging. Obstet Gynecol. 1988;72 (3 Pt 2): 472-5. - Pubmed citation
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4. Senocak EU, Oguz KK, Haliloglu G et-al. Prenatal diagnosis of Pena-Shokeir syndrome phenotype by ultrasonography and MR imaging. Pediatr Radiol. 2009;39 (4): 377-80. doi:10.1007/s00247-008-1121-5 - Pubmed citation
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5. Ajayi RA, Keen CE, Knott PD. Ultrasound diagnosis of the Pena Shokeir phenotype at 14 weeks of pregnancy. Prenat. Diagn. 1995;15 (8): 762-4. - Pubmed citation
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6. Ochi H, Kobayashi E, Matsubara K et-al. Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I. Ultrasound Obstet Gynecol. 2001;17 (6): 546-7. doi:10.1046/j.1469-0705.2001.00405.x - Pubmed citation
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7. Paladini D, Tartaglione A, Agangi A, Foglia S, Martinelli P, Nappi C. Pena-Shokeir Phenotype with Variable Onset in Three Consecutive Pregnancies. Ultrasound Obstet Gynecol. 2001;17(2):163-5. doi:10.1046/j.1469-0705.2001.00246.x - Pubmed
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8. Horrow MM, Rosenberg HK, Schneider AS et-al. US case of the day. Pena-Shokeir phenotype. Radiographics. 1995;15 (3): 726-9. Radiographics (citation) - Pubmed citation
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9. Pena SD, Shokeir MH. Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition. J. Pediatr. 1974;85 (3): 373-5. - Pubmed citation
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10. Reinhard Schumacher, Laurie H. Seaver, Jürgen Spranger. Fetal Radiology. (2010) ISBN: 9783642035593 - Google Books
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11. Michael Entezami. Ultrasound Diagnosis of Fetal Anomalies. (2004) ISBN: 9781588902122 - Google Books
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Gupta P, Sharma J, Sharma R, Gadodia A, Kumar S, Roy K. Antenatal Ultrasound and MRI Findings of Pena-Shokeir Syndrome. Arch Gynecol Obstet. 2011;283 Suppl 1(S1):27-9. doi:10.1007/s00404-010-1703-y - Pubmed
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