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Articles » Skeletal » Acromesomelic dysplasia

2006-10-24-08 Acromesomelic dysplasia © Moran

Acromesomelic dysplasia

Moran Karen, DMU AMS



This is a case of 31-year-old patient (G2P1) with unremarkable familiar history and uncomplicated pregnancy. Ultrasound examination revealed short forearms with rudimentary hands. Lower legs were shortened without tarsal bones and with severe talipes bilaterally. Cardiovascular system was normal. Maternal serum screening was "low risk".
The patient decided for termination of the pregnancy a few days later and the dismembered remains were examined by a pathologist who confirmed slightly clubbed humerus and femur, with humerus 9mm (normal) and femur 7.4mm (short). Paired bones were hypoplastic (extremely short radius 1.6 and ulna 2.1mm). No lower leg bones found. Hands and feet weren"t recognizable. The results of our investigations correlate with the acromesomelic dysplasia.

Short forearms


Short legs


3D picture of the fetal legs

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