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Arch Gynecol Obstet. 2011 Mar;283 Suppl 1:27-9. doi: 10.1007/s00404-010-1703-y. Epub 2010 Oct 12.

Antenatal ultrasound and MRI findings of Pena-Shokeir syndrome.

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  • 1Department of Obstetrics and Gynecology, All India Institute of Medical Sciences, New Delhi, 110029, India.

Abstract

INTRODUCTION:

Pena-Shokeir syndrome is an autosomal recessive disorder characterized by arthrogryposis, facial anomalies (micrognathia), camptodactyly, polyhydramnios and lung hypoplasia.

CASE REPORT:

We report prenatal ultrasonographic, antenatal MR and postnatal examination findings of a fetus with Pena-Shokeir syndrome.

CONCLUSION:

Pena-Shokeir syndrome is a potentially lethal condition and most cases are diagnosed prenatally by ultrasound. Fetal MR can be performed to look associated neurological malformation.

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