Prenatal diagnosis of Pena-Shokeir syndrome phenotype by ultrasonography and MR imaging

Senocak E. U., Oguz K. K., Haliloglu G., Karcaaltincaba D., AKATA D., Kandemir O.

PEDIATRIC RADIOLOGY, vol.39, no.4, pp.377-380, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 39 Issue: 4
  • Publication Date: 2009
  • Doi Number: 10.1007/s00247-008-1121-5
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.377-380
  • Hacettepe University Affiliated: Yes


Pena-Shokeir syndrome phenotype is characterized by neurogenic arthrogryposis, facial anomalies, polyhydramnios and lung hypoplasia. Prenatal US is crucial in showing Pena-Shokeir syndrome phenotype in addition to demonstrating reduced fetal movements or akinesia as an underlying aetiological factor as early as the 14th week of gestation. Several reports of prenatal diagnosis of Pena-Shokeir syndrome phenotype by US have been published. In this report, MRI findings providing prenatal diagnosis are presented.