Spondylocostal dysplasia (Jarcho-Levin syndrome) comprises multiple malformations of the vertebrae and ribs coupled with a characteristic clinical picture of short neck, scoliosis, short trunk, and deformity of the rib cage. We describe a patient with the syndrome who also had spina bifida and diastematomyelia. We surmise that this association is not coincidental. Additional evidence is needed ...

conclusions getting a complete knowledge of the condition and evaluating different treatment modalities to treat thoracic insufficiency syndrome. results a direct enlargement of the thorax that will thus provide sufficient space for lung growth; the correction of both the three-dimensional thoracic deformity and the progressive scoliosis. recent findings have revealed that veptr instrumentation...

We present a case of postnatally recognized spondylocostal dysplasia that was prenatally misdiagnosed as fetal thoracolumbar kyphoscoliosis secondary to spinal fusion anomalies. Neither two-dimensional ultrasound nor MRI identified the rib anomalies, nor did they allow for correct identification of the more compromised lung. Spondylocostal and spondylothoracic dysostoses involve rib deformities...

A loss-of-function mutation in the mouse delta-like3 (Dll3) gene has been generated following gene targeting, and results in severe axial skeletal defects. These defects, which consist of highly disorganised vertebrae and costal defects, are similar to those associated with the Dll3-dependent pudgy mutant in mouse and with spondylocostal dysplasia (MIM 277300) in humans. This study demonstrates...

A female neonate who was born as large for gestational age baby to a Diabetic mother had a continuous murmur in the left infraclavicular area with scolisis toward right and deficient ribs in the right side of her chest wall. She had a sacral dimple and a skin tag in the right lower back. Radiograph revealed hemivertebrae from T1-T6 level with absent third and seventh ribs and fused fourth, fift...

Jarcho-Levin syndrome (JLS) also known as spondylocostal dysplasia is a rare congenital dysplastic disorder involving ribs and vertebrae. It an autosomal recessive form of inheritance however dominant forms have been reported. Multiple genes postulated to be causative, exact genetic basis not known. Infants usually present at birth with respiratory distress varying degree thoracic vertebral ano...

Jarcho Levin syndrome is a rare genetic disorder characterized by multipl vertebral and costal anomalies at birth. Jarcho Levin syndrome includes two phenotypic groups: spondylothoracic dysostosis and spondylocostal dysostosis. The prognosis of spondylothoracic dysostosis has worse than spondylocostal dysostosis, because of respiratory complications. Associated malformations include those of th...