Spondylocostal Dysplasia and Brachydactyly: a case report

We report a preterm male neonate presenting with a skeletal dysplasia associated with multiple congenital anomalies. Radiologic findings and genetic studies are consistent with spondylocostal dysostosis (SCD) and autosomal dominant brachydactyly. This is the first case report of spondylocostal dysostosis and brachydactyly associated with TBX6 and IHH variants.

Jarcho-Levin syndrome term baby with recurrent apnea

Jarcho-Levin syndrome or spondylocostal dysostosis, is a rare axial skeleton anomaly due to mutation in genes involved in somitic segmentation during embryogenesis. We describe a term, newborn baby with antenatally detected midthoracic lordotic deformity with skeletal features of multiple rib anomalies and vertebral defects, but with normal limb lengths. Baby had recurrent apnea requiring non-invasive ventilation and was successfully weaned to room air within 2 days. This syndrome is underdiagnosed and we wish to highlight the simple process involved in making a clinico-radiological diagnosis.

Altered Cogs of the Clock: Insights into the Embryonic Etiology of Spondylocostal Dysostosis

Spondylocostal dysostosis (SCDO) is a rare heritable congenital condition, characterized by multiple severe malformations of the vertebrae and ribs. Great advances were made in the last decades at the clinical level, by identifying the genetic mutations underlying the different forms of the disease. These were matched by extraordinary findings in the Developmental Biology field, which elucidated the cellular and molecular mechanisms involved in embryo body segmentation into the precursors of the axial skeleton. Of particular relevance was the discovery of the somitogenesis molecular clock that controls the progression of somite boundary formation over time. An overview of these concepts is presented, including the evidence obtained from animal models on the embryonic origins of the mutant-dependent disease. Evidence of an environmental contribution to the severity of the disease is discussed. Finally, a brief reference is made to emerging in vitro models of human somitogenesis which are being employed to model the molecular and cellular events occurring in SCDO. These represent great promise for understanding this and other human diseases and for the development of more efficient therapeutic approaches.