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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References
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Gupta, P., Sharma, J.B., Sharma, R. et al. Antenatal ultrasound and MRI findings of Pena–Shokeir syndrome. Arch Gynecol Obstet 283 (Suppl 1), 27–29 (2011). https://doi.org/10.1007/s00404-010-1703-y
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DOI: https://doi.org/10.1007/s00404-010-1703-y