SHORT COMMUNICATION Antenatal ultrasound and MRI findings of Pena–Shokeir syndrome Prerna Gupta • J. B. Sharma • Raju Sharma • Ankur Gadodia • Sunesh Kumar • K. K. Roy Received: 1 May 2010 / Accepted: 22 September 2010 Ó Springer-Verlag 2010 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, ante- natal 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. Keywords Fetal MR Á Pena–Shokeir syndrome Á Ultrasound Á Fetal akinesia Introduction Pena–Shokeir syndrome is an autosomal recessive disorder characterized by arthrogryposis, facial anomalies (micro- gnathia), camptodactyly, polyhydramnios and lung hypo- plasia [1–3]. Sonographic diagnosis is based on absent fetal movement and abnormal limb position [3–6]. To the best of our knowledge, there are only two reports of antenatal MR findings in Pena–Shokeir syndrome [7, 8]. We report the prenatal sonographic, MR findings of Pena–Shokeir phenotype with pathological correlation. Case history A 24-year-old woman, gravida 2 para 1, presented to another institution at 26 weeks’ gestation for routine antenatal examination. The parents were unrelated and there was no significant family history of skeletal, genetic or congenital anomalies. There was no history of exposure to alcohol, teratogenic drugs. Antenatal ultrasound (US) performed at 26 weeks at an outside institution revealed kyphoscoliosis with reduced fetal movements. Amniocen- tesis was performed at 27 weeks’ gestation and the karyotype was normal (46, XY). Following amniocentesis she presented to our hospital at 28 weeks of gestation with reduced fetal movements. A repeat US and MRI were performed at 28 weeks and 28 weeks 4 days, respectively. On US the biparietal diameter (64 mm) and femur length (44 mm) were consistent with the gestational date (28 weeks), while the abdominal circumference (182 mm) revealed growth restriction (22 weeks). MRI (Avanto, Siemens; Erlangen, Germany) was performed to further evaluate the fetus using T1-weighted, T2-weighted (half Fourier single-shot turbo spin echo, HASTE) and Tru-FISP sequences. US and fetal MR demonstrated distorted spine with scoliosis, persistent flexion of the bilateral wrist, elbow joints and knee joints and bilateral club foot (Fig. 1a, b). Retromicrognathia and pulmonary hypoplasia were also present and were better depicted on MR images (Fig. 2a, b). Fetal posture was fixed and there was no movement during the ultrasound and MR examination. Also, stomach did not fill over the prolonged scanning time. MR images demonstrated skin and subcutaneous P. Gupta Á J. B. Sharma Á S. Kumar Á K. K. Roy Department of Obstetrics and Gynecology, All India Institute of Medical Sciences, New Delhi 110029, India R. Sharma (&) Á A. Gadodia Department of Radio-diagnosis, All India Institute of Medical Sciences, New Delhi 110029, India e-mail: raju152@yahoo.com 123 Arch Gynecol Obstet DOI 10.1007/s00404-010-1703-y