Jarcho-Levin syndrome
Diagnosis certain
Updates to Freetext Attributes
Description
was removed:
Dr F. Cuillier also significantly contributed to this case.
Updates to Case Attributes
Age
changed from 23 weeks' gestation to 23 weeks gestation.
Body
was changed:
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 Ultrasoundultrasound 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.
-<p>Bilateral severe ventriculomegaly here rules out mild conditions such as limited dorsal myeloschisis.</p><p>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.</p><p>In this case, the main finding is a skeletal malformation limited to a segment: dysostosis.<br>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.</p>- +<p>Bilateral severe ventriculomegaly here rules out mild conditions such as limited dorsal myeloschisis.</p><p>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.</p><p>In this case, the main finding is a skeletal malformation limited to a segment: dysostosis.<br>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.</p><p>Dr F Cuillier also significantly contributed to this case.</p>
Systems changed:
- Musculoskeletal
- Spine