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:
- arthrogryposis which may in turn given many additional features such as:
- facial anomalies: thought to be due to fetal akinesia 5
- pulmonary hypoplasia
- intra-uterine growth restriction (IUGR)
Some consider the syndrome to be of two distinct types:
- Pena Shokeir syndrome type I: some publications consider this to fall under the same spectrum of the fetal akinesia sequence
- Pena Shokeir syndrome type II
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:
- 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. AJR Am J Roentgenol (abstract) - Pubmed citation
- 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
- 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
- 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
- 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
- 7. Paladini D, Tartaglione A, Agangi A et-al. 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 citation
- 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
- 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
- 10. 1. Schumacher R, Seaver LH, Spranger J. Fetal Radiology, A Diagnostic Atlas. Springer Verlag. (2011) ISBN:3642035590. Read it at Google Books - Find it at Amazon
- 11. Entezami M, Albig M, Knoll U et-al. Ultrasound Diagnosis of Fetal Anomalies. Thieme. (2003) ISBN:1588902129. Read it at Google Books - Find it at Amazon
- Gupta P, Sharma JB, Sharma R et-al. Antenatal ultrasound and MRI findings of Pena-Shokeir syndrome. 2010;doi:10.1007/s00404-010-1703-y - Pubmed citation