In humans, congenital spinal defects occur with an incidence of 0.5-1 per 1000 live births. One of the most severe syndromes with such defects is spondylocostal dysostosis (SCD). Over the past decade, the genetic basis of several forms of autosomal recessive SCD cases has been solved with the identification of four causative genes (DLL3, MESP2, LFNG and HES7). Autosomal dominant forms of SCD ha...

Among other functions, the Notch signaling pathway contributes to the development of somites [4] in animals. It involves a cell signaling mechanism with a wide range of functions, including cellular differentiation [5], and the formation of the embryonic structures (embryogenesis [6]). All multicellular animals use Notch signaling, which is involved in the development, maintenance, and regenera...

Aicardi’s syndrome consists of infantile spasms, defects of the corpus callosum, dorsal vertebral anomalies, and chorioretinal lacunar defects. The etiology is, as yet, unknown. The most likely cause, however, is an X-linked mutational event that is lethal in males. This paper presents a girl 3 years 8 months old with Aicardi's syndrome who received corticotropin therapy for intractable seizure...

Notch signaling regulates a vast array of crucial developmental processes. It is therefore not surprising that mutations in genes encoding Notch receptors or ligands lead to a variety of congenital disorders in humans. For example, loss of function of Notch results in Adams-Oliver syndrome, Alagille syndrome, spondylocostal dysostosis and congenital heart disorders, while Notch gain of function...

Inaccurate identification of vertebral levels is the main cause of wrong-site spine surgery which is performed by nearly half of the spine surgeons. Unusual anatomy and failure to verify the surgical level on radiographs have been commonly reported. We aimed at investigating the variations in vertebral number in adolescent idiopathic scoliosis (AIS) patients and thus to raise awareness of the p...

Among other functions, the Notch signaling pathway contributes to the development of somites [4] in animals. It involves a cell signaling mechanism with a wide range of functions, including cellular differentiation [5], and the formation of the embryonic structures (embryogenesis [6]). All multicellular animals use Notch signaling, which is involved in the development, maintenance, and regenera...

Among other functions, the Notch signaling pathway contributes to the development of somites [4] in animals. It involves a cell signaling mechanism with a wide range of functions, including cellular differentiation [5], and the formation of the embryonic structures (embryogenesis [6]). All multicellular animals use Notch signaling, which is involved in the development, maintenance, and regenera...

The etiology of congenital scoliosis and its development remains unclear and has not yet been fully identified, even there are theories that congenital scoliosis could be derived from the failure of formation or failure of segmentation, which are etiologically heterogeneous with genetic, epigenetic, and environmental factors contributing to their occurrence. We reported a case of long-term foll...

Oculo-auriculovertebral spectrum (OAVS) or the Goldenhar syndrome is a rare developmental disorder with plethora of congenital anomalies which mostly affects structures arising from the fi rst and the second branchial arches. The affected structures include cheekbone, jaws, mouth eyes, ear and vertebrae. The case which we are presenting here had classical features such as microsomia, unilateral...

VACTERL (vertebral anomalies, anal atresia, cardiac defect, tracheoesophageal fistula, renal anomaly, limb anomalies) is an association of anomalies with a wide spectrum of phenotypic expression. While the majority of cases are sporadic, there is evidence of an inherited component in a small number of patients as well as the potential influence of nongenetic risk factors (maternal diabetes mell...