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Articles » Syndromes » VACTERL association

2011-10-09-17 VACTERL association © Cuillier www.TheFetus.net

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.