Jarcho-Levin-Syndrom

Jarcho-Levin

syndrome • Jarcho-Levin syndrome - Ganzer Fall bei Radiopaedia

Ho F, Jarcho-Levin syndrome. Case study, Radiopaedia.org (Accessed on 03 Dec 2022) https://doi.org/10.53347/rID-57856 • CC by-nc-sa 3.0 (modified)

Jarcho-Levin

syndrome • Jarcho-Levine syndrome - Ganzer Fall bei Radiopaedia

Aggarwal D, Jarcho-Levine syndrome. Case study, Radiopaedia.org (Accessed on 03 Dec 2022) https://doi.org/10.53347/rID-78338 • CC by-nc-sa 3.0 (modified)

Toddler with

short stature. AP and lateral radiographs of the spine show multiple vertebral body anomalies throughout the spine including butterfly vertebrae, hemivertebrae, fused vertebrae and hypoplastic vertebrae. There are also multiple levels of rib fusion present posteriorly.The diagnosis was spondylothoracic dysostosis with the multiple vertebral body anomalies resulting in congenital scoliosis.

pediatricimaging.org • CC-by-nc-sa 4.0

Radiopaedia • CC-by-nc-sa 3.0 • de

The Jarcho-Levin syndrome (JLS) or spondylothoracic dysostosis is a rare autosomal recessive heterogeneous disorder that can occur with variable severity. Previously the condition spondylocostal dysostosis was also considered as part of the JLS spectrum but is now considered a distinct pathological entity.

Clinical presentation

It is primarily characterized by a short neck, short trunk and a constricted thorax (narrow fetal thorax) due to multiple ribs (crab-like or fan-like radiation of the ribs) and vertebral anomalies at all levels of the vertebral column, including:

butterfly vertebrae
hemivertebrae
fused vertebrae
hypoplastic vertebrae

Pathology

Genetics

There are variously described inheritance patterns ranging from autosomal recessive to autosomal dominant.

Treatment and prognosis

The small size of the thorax in newborns frequently leads to respiratory compromise and death in infancy. Some rare variants with survival into adulthood have also been described.