Radial ray aplasia

Fabrice Cuillier, MD*; Baron, MD**; L. Lagarde, MD**

* Department of Gynecology, Félix Guyon Hospital, 97400 Saint-Denis, Ile de la Réunion, France. Tel: 0262 90 55 22. Fax: 0262 90 77 30;
* Department of Gynecology, Gabriel Martin’Hospital, 97450 Saint-Paul, Ile de la Réunion, France.

Case report

A 38-year-old woman (G2P1) was referred to our antenatal unit at 32 weeks of her pregnancy. Her medical history was non-contributive. Our sonographic examination of the fetus revealed following findings:

  • Short forearm of the right upper limb with missing radius (Image 1);

  • Radial deviation of the right hand with only rudimentary thumb (Image 2, 3, 4, and 5);

  • Normal appearance of the left upper limb and spine.

Fetal karyotyping was normal (46, XX). A spiraled CT scan was also done and confirmed the finding (Image 6). The sonographic features were concordant with diagnosis of the radial ray aplasia.

The baby was delivered vaginally and the diagnosis was confirmed.

Images 1, 2: The image 1 compares normal left forearm (left half of the image - normal ulna can be seen) and the abnormal right forearm with missing radius (right half of the image - the ulna is shorter than the left one). The image 2 shows the left hand of the fetus with absent thumb.

1A
1D

Images 3, 4, 5: 3D images of the right hand. Abnormal radial deviation of the hand is clearly seen.

2A
2B
2C
 

Image 6: Spiral CT shows the fetus with the radial ray aplasia.

3A

Images 7, 8: Postnatal appearance of the right hand of the neonate with the radial ray aplasia. 

4A
4B

 

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