For Genetic Test
List of OMM
Online Mendelian Inheritance in Man
2011-01-10-12 Acheiria © Faschingbauer
This is a case of a 31-year-old G2 P1 who came for an anomaly scan at 22 weeks of gestation. Patient had non-contributive family and personal history. Her previous pregnancy was uncomplicated and she delivered a healthy son.
During our scan, we detected an isolated absence of the right hand. The rest of the right upper extremity was of normal appearance, all the long bones were present. The left upper extremity was normal as well as both legs. We did not find any other abnormality. The final diagnosis was acheiria.
: 26 weeks, Image 1 shows a 3D-image of the healthy left forearm and hand. Image 2 shows a 2D-image of the right forearm, note the missing hand.
: 3D-images of the right upper extremity, note the missing hand.
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