Jarcho-Levin syndrome

Discussion:

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 puzzle-like vertebrae and radiating ribs is the pathognomonic pattern of Jarcho-Levin syndrome. Other terms used in the literature are spondylothoracic dysplasia and spondylocostal dysostosis.

Dr F Cuillier also significantly contributed to this case.

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