Mutations in the DSL (Delta, Serrate, Lag2) Notch (N) ligand Delta-like (Dll) 3 cause skeletal abnormalities in spondylocostal dysostosis, which is consistent with a critical role for N signaling during somitogenesis. Understanding how Dll3 functions is complicated by reports that DSL ligands both activate and inhibit N signaling. In contrast to other DSL ligands, we show that Dll3 does not act...

Although, Facio-auriculo-vertebral sequence (FAVS) is a well recognized condition with cranio-facial, ocular and vertebral anomalies, extreme variability of expression is characteristic. Association of cardiac, CNS, lungs, kidneys and limb defects are described. We report a neonatal case with FAVS in association with congenital hypoparathyroidism.

Defects in the Notch pathway ligand Dll3 have been identified in the mouse pudgy (Dll3(pu)) and human spondylocostal dysostosis (SD, MIM 277300) mutations. Although these mutations are primarily associated with segmental defects in the axial skeleton and somitic patterning, they also exhibit cranial neurological defects. Therefore we have looked at the expression of Dll3 in the developing mouse...

Although some of them may remain asymptomatic, congenital vertebral anomalies lead to spinal deformity and scoliosis. However they are relatively rarely seen in the cervical vertebrae [1]. We present a 10-year-old patient with several coexistent vertebral anomalies affecting the craniovertebral junction and upper vertebrae, which we believe to be a didactic example to the imaging anatomy of the...

Conjugated hyperbilirubinemia, posterior embryotoxon, and vertebral anomalies are not features of William syndrome (WS). We herein report a preterm infant who presented with features suggestive of Alagille syndrome, but microarray showed findings consistent with WS. This further extends the phenotype of WS and emphasizes the need for microarray analysis.

A case of Goldenhar Syndrome, in an adult male, with the typical triad of auricular appendages, epibulbar dermoid and vertebral anomalies is presented. The relevent literature is review. The differential diagnosis of this Syndrome from a few similar syndromes is stressed.

To cite: Singla V, Vijayalakshmi IB, Singh B, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2013202323 DESCRIPTION A 2-year-old female presented with asymptomatic continuous murmur. Echocardiogram revealed patent ductus arteriosus (PDA). Chest roentgenogram (figure 1) incidentally showed scoliosis, hemivertebrae (seventh thoracic vertebrae), failure of fu...

A study of spondylolysis and spondylolisthesis in 142 children and adolescents is reported. In twelve of the seventy-nine patients followed for over a year the affected vertebra slipped further by 10 per cent or more. Increasing slip occurred mainly during the adolescent growth spurt, and was greater when spinal bifida or other vertebral anomalies were present. If at presentation the slip is le...

Introduction: Morphometric measurements including the weight of foetal spinal cord is helpful in determining the age and sex of foetuses, which are of great medicolegal significance. The aim of present study is to obtain accurate measurements of weight of human foetal spinal cord in different age groups. Material and Methods: Foetuses without any congenital cranio-vertebral anomalies were selec...