Jarcho-Levin syndrome

Incidental findings at second-trimester US screening. Normal NT, standard risk for down syndrome. Non-consanguineous couple, no. No peculiar history.

Bilateral severe ventriculomegaly here rules out mild conditions such as limited dorsal myeloschisis.

Dorsal myelomeningocele is a rare location of spina bifida, and should prompt even more careful examination of the thoracic spine. Bone 3D Ultrasound is useful, as well as fetal bone CT.

In this case, the main finding is a skeletal malformation limited to a segment: dysostosis.Thoracic dysostosis with a puzzle-like vertebrae and radiating ribs is the pathognomonic pattern of Jarcho-Levin syndrome. Other terms used in the litteratureliterature are spondylothoracic dysplasia and spondylocostal dysostosis.

Thoracic spina bifida with myelomeningocele, complicated with ventriculomegaly (most likely a Chiari II).

Careful examination of the thoracic vertebrae is abnormal, this is much easier to see thanks to 3D ultrasound bone imaging.

Puzzle thoracic vertebrae with radiating ribs "crab-like" ribs.SkeletonThe skeleton is otherwise normal onincluding other parts of the spine, pelvic bone, skull and limbs.