Congenital scoliosis remains an interesting and challenging diagnostic entity. Vertebral absence, partial formation or lack of segmentation may cause asymmetrical growth and resultant deformity. Because of the high frequency of associated anomalies within and outside the spine, a detailed history and physical examination are mandatory. Maternal, perinatal history, family history, and developmen...

The adriamycin-induced rat model of the Vertebral, Anorectal, Tracheo-Esophageal, Radial and Renal (VATER) association produces a variety of vertebral, rib, and limb abnormalities. This study was designed to document accurately the nature of these abnormalities and to determine whether synovial joints are affected. Fetuses from pregnant Sprague Dawley rats that had received intraperitoneal inje...

BACKGROUND Robinow syndrome or "foetal face" syndrome is an extremely rare genetic disorder with characteristic skeletal and orofacial findings. The purpose of the present case report is to describe the clinical findings of an 8 year-old female patient with autosomal recessive Robinow syndrome. CASE REPORT The patient was born to consanguineous parents and had anomalies typical of the recessi...

Facio-Auriculo-Vertebral (FAV) spectrum, also known as Goldenhar syndrome or first and second branchial arch syndrome, is a complex of mainly craniofacial and vertebral anomalies. Microtia is a principal malformation in this complex; it can be unilateral or bilateral. We performed an observational, retrospective, transverse descriptive clinical study, reviewing 149 records of patients with a di...

Vertebrobasilar insufficiency leading to posterior circulation infarcts caused by congenital hypoplasia of the bilateral transverse foramina at the C2 level, affecting the caliber and flow of the bilateral distal cervical vertebral arteries in an adult, has not been previously reported. A 41-year-old male presented with episodic dizziness for a period of 1 year prior to consultation. Computed t...

BACKGROUND AND PURPOSE Segmental spinal dysgenesis (SSD) is a rare congenital abnormality in which a segment of the spine and spinal cord fails to develop properly. Our goal was to investigate the neuroradiologic features of this condition in order to correlate our findings with the degree of residual spinal cord function, and to provide insight into the embryologic origin of this disorder. We ...

We report a 61 years old male presenting with a right cerebral infarction, along with a type I persistent left proatlantal artery (PA), which is a form of primitive carotid-basilar anastomosis. The patient had an absence of the ipsilateral vertebral artery (VA) and hypoplasia of the contralateral VA, while the basilar artery was supplied by the PA. Other vascular anomalies present were a fusifo...

Introduction Bony variations related to failure of segmentation of most caudal of the occipital sclerotomes, the pro-atlas, are rare, but have been documented [1]. The developmental failures lead to unusual bone formation at the anterior rim of foramen magnum, either in midline or laterally. Developmental osseous anomalies of the cranio-vertebral complex can result in neural compression, vascul...

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.