Presentation
Routine second-trimester US screening. Normal nuchal translucency, low risk of Down syndrome. Non-consanguineous parents. No specific history.
Patient Data
Thoracic spina bifida with myelomeningocele, complicated with ventriculomegaly (most likely a Chiari II).
The examination of the thoracic vertebrae is abnormal, and this is much easier to see on the 3D ultrasound bone imaging.
Video features a sagittal scanning, cranial pole being on the right of the image, caudal on the left.
Puzzle thoracic vertebrae with radiating "crab-like" ribs.
The skeleton is otherwise normal including other parts of the spine, pelvic bone, skull and limbs.
Case 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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