Craniofacial microsomia (CFM) includes a spectrum of malformations primarily involving structures derived from the first and second branchial arches. Patients with hemifacial microsomia and epibulbar dermoids are said to have Goldenhar syndrome (GHS). Four-month-old boy with whitish pupillary reflex presented with the features of GHS in pediatric ophthalmology clinic. The child had ocular and a...

STUDY DESIGN Retrospective case study by clinical and radiological data analysis. PURPOSE To analyze different types of vertebral anomalies and the incidence of associated intraspinal anomalies in the Indian population. OVERVIEW OF LITERATURE This is the largest study of congenital scoliosis and associated intraspinal anomalies in Indian population. Incidence of intraspinal anomaly in this ...

BACKGROUND Vertebrae, ribs, and spinal cord are anatomically adjacent structures, and their close relationships are clinically important for planning better corrective surgical approach. The objective is to identify the radiographic characteristics in surgical patients with congenital scoliosis (CS) and coexisting split cord malformation (SCM). METHODS A total of 266 patients with CS and SCM ...

Gorlin-Goltz syndrome is a rare multisystemic disease inherited in an autosomal dominant pattern. It is characterized by numerous basal cell carcinoma of the skin, jaw cysts, and skeletal anomalies such as frontal bossing, vertebral anomalies, palmoplantar pits, and falx cerebri calcification. There is a tendency to tumors including medullablastoma, fibroma, rabdomyoma, leiomyosarcoma etc.. The...

Spine or vertebrae holds the crucial role in neurological manifestation and axial balance. The same also represents the determining characteristic feature of vertebrata. Physiologically spine consist major functional attribute related to peripheral nervous system. It has been shown that, manipulation of spinal cord architecture either by accidental event or genetic reason is associated with var...

Rubinstein-Taybi syndrome (RSTS) can be caused by heterozygous mutations or deletions involving CREBBP or, less commonly, EP300. To date, only 15 patients with EP300 mutations have been clinically described. Frequently reported manifestations in these patients include characteristic facial and limb features, varying degrees of neurocognitive dysfunction, and maternal preeclampsia. Other congeni...

Intrathoracic rib (IR) is a very rare anomaly in which a normal, an accessory, or a bifid rib lies within the chest cavity and may originate from a vertebra or a rib. It is more commonly present on the right side, and sometimes it may be associated with vertebral anomalies. Only 50 cases have been reported to date in the literature. In most cases, the IR is an isolated finding; it is incidental...

We read with great interest the contribution of Gupta et al on the lumbo-costo-vertebral syndrome (LCVS).[1] We encountered this rare anomaly in a 39 week-of-gestation female patient, who after an uncomplicated birth underwent investigation because of a left lumbar hernia, and vertebral anomalies. Imaging assay with plain radiography, revealed the presence of tenth and eleventh thoracic hemiver...

Spondylocostal dysostosis (SCD) is a term given to a heterogeneous group of disorders characterized by abnormal vertebral segmentation (AVS). We have previously identified mutations in the Delta-like 3 (DLL3) gene as a major cause of autosomal recessive spondylocostal dysostosis. DLL3 encodes a ligand for the Notch receptor and, when mutated, defective somitogenesis occurs resulting in a consis...

BACKGROUND Radiation to the juxtaspinal area in children with malignant tumors induces the appearance of a postradiation spinal deformity (PRSD) with drastic progression during the growth spurt, so surgical correction is mandatory. Methods of surgical treatment depend on the age of the patient, and the type and size of the spinal deformity. METHODS A long-term retrospective survey of 6 patien...