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2010-11-18-11 Arthrogryposis, Akinesia sequence © Muresan www.TheFetus.net

 Arthrogryposis akinesia sequence


Marius Bogdan Muresan, MD.*, Maria Cezara Muresan, MD.**


*   Medical Center of Dr.Muresan, Timisoara, Romania.
**  Department of Obstetrics and Gynecology, V. Babes medical University, Timisoara, Romania.


Case report

This is a case of a 24-year-old G1 P0 who was referred to our center for ultrasound examination at 25 weeks of gestation. The ultrasound examination revealed the following findings: Marked retrognathia, low set ears, arthrogryposis with severe malrotation of the feet, clenched hands, subcutaneous edema, nuchal fold thickening, enlarged cisterna magna and cerebellar hypoplasia. There was also a tumor located in the right ventricle, arising very likely from the right ventricular wall, most likely a rhabdomyoma. The amount of the amniotic fluid was increased.

Our differential diagnosis included: Lethal type of multiple pterygium syndrome, Arthrogryposis, akinesia sequence and Trisomy 18.

We performed the amniocentesis which showed a normal male karyotype, 46 XY.

Patient opted for pregnancy termination based on the ultrasound findings. The autopsy was not performed but the final diagnosis based on clinical findings was Arthrogryposis, akinesia sequence.

Images 1,2: Image 1 shows the enlarged cisterna magna and thickened nuchal fold. Image 2 shows thickened nuchal fold and subcutaneus edema.



Images 3,4: Image 3 shows a 4-chamber view with the echogenic tumor in the right ventricle, very likely rhabdomyoma. Image 4 shows forearm and elbow.



Images 5,6: Image 5 shows tibia and ankle. Image 6 shows the enlarged amount of the amniotic fluid.



Images 7,8: 3D-images of the fetal face. Note severe retrognathia, low set ears.



Images 9,10: Images show open mouth posture and recessed chin.



Images 11-13
: Abnormal posturing of hands and feet, note clenched hands.



 

Images 14,15: Images of the fetus after termination of the pregnancy, note the facial features and abnormal posturing of the extremities, clenched hands, severe malposition of the feet.



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