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2011-10-09-17 VACTERL association © Cuillier

VACTERL association

Fabrice Cuillier, MD. *, J.L. Alessandri, MD.**, P. Lemaire, MD.***, M. Deshayes, MD.*** 

*   Department of Gynecology, Félix Guyon Hospital, 97400 Saint-Denis, Ile de la Réunion, France.
**  Service de Néonatologie, Hôpital F. Guyon, 97400 Saint-Denis, Réunion, France.
*** Cabinet d’Echographie, Route du Moufia, 97400 Saint-Denis, Réunion, France.

Case report

This is a case of a 20-year-old woman, G2P1, who was referred to our department at 22 weeks of gestation. Her personal and family histories were non-contributive. 
First trimester scan at 13 weeks was reported to be normal (nuchal translucency = 1 mm, CRL = 68 mm) and the triple test was negative.
Our ultrasound examination revealed the following findings: 

  • Scoliosis of the spine at the level of  11th and 12th thoracic vertebrae, intact overlying skin, no open neural tube defect
  • Bilateral moderate pyelectasis 
  • Small penis with hypospadia 
  • Nasal bone hypoplasia
  • Single umbilical artery
Amniocentesis revealed normal karyotype 16XY. Spiral CT scan confirmed scoliosis and hemivertebra at the level of 11th and 12th thoracic vertebrae.

Following scan at 29 weeks confirmed our previous findings. The patient opted for continuation of the pregnancy and the baby was delivered at 37 weeks.

Postnatal radiograms confirmed the finding of hemivertebrae with large intervertebral spaces. Imperforate anus and hypospadia were also present. Summarizing all the findings the final diagnosis was VACTERL association.

Images 1,2: 22 weeks, Image 1 shows a sagittal view of the spine with abrupt change in the spinal curvature at the level of 11th-12th thoracic vertebrae. Image 2 - transverse view of the affected vertebrae showing hemivertebra.


Images 3,4: 3D-images of the spine showing scoliosis.


Images 5,6: Bilateral moderate pyelectasis.


Images 7,8: Male genitalia, small penis with possible hypospadia.


Images 9,10: Image 9 shows a hypoplastic nasal bone. Image 10, single umbilical artery.


Images 11-14: Spiral CT scan showing the presence of hemivertebrae at the level of 11th and 12th thoracic vertebrae.


Images 15,16: 29 weeks, Image 15 shows a transverse view of the hemivertebrae. Image 16 shows a 3D image of the spine with scoliosis.


Images 17,18: Postnatal X-ray images confirming the finding of hemivertebrae and scoliosis.


Image 18: Picture of the hypospadia and imperforate anus.

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