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2010-05-19-15 Isolated unilateral acheiria © Mazzocco

Isolated unilateral acheiria

Annibale Mazzocco, MD; Albana Cerekja, MD. PhD.

*  Prenatal diagnosis and obstetrical US Service. Obstetrics and Gynecology Department. Montebelluna Hospital,Treviso, Italy.
** Ultrasound Division, ASL Roma B, Rome, Italy.

Case report

A 33-year-old G2 P1 was referred to our department for the second trimester ultrasound scan. Her family and personal history were both non-contributive. She had no history of drug abuse or use of medication in  the first trimester of her pregnancy. There were no limb reduction defects in the family.

First trimester ultrasound scan was performed at 8 weeks of gestation and did not reveal any abnormality.

The ultrasound scan performed at 21 weeks of gestation showed the absence of the left hand with the evidence of a digital (finger)-like projection. No other anomalies were detected.

Parents decided for the pregnancy termination based on the ultrasound findings. Autopsy confirmed the ultrasound finding of isolated unilateral acheiria. There were no other anomalies described by pathologist.  The karyotype of the fetus was normal.

Images 1,2: Images of the long bones of the upper extremities, their length corresponds with the duration of the pregnancy.

Image 3: Forearm of the upper extremity, the arrow indicates the absence of the hand.

Images 4,5
: 3D images showing the absence of the left hand.

Images 6,7,8: Images of the fetus after pregnancy termination, note the absence of the left hand and normal appearance of the right hand.


Image 9: X-ray of the fetus showing the absence of the left hand, there are
no bony structures corresponding with the digital-like projections.

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