The VATER/VACTERL association is typically defined by the presence of at least 3 of the following congenital malformations: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities. The involvement of genetic factors in the development of this rare association is suggested by reports of familial occurrence, the increased preva...

Congenital scoliosis due to vertebral anomalies may occur in less than 0.1% of the population. Several different theories have been put forth in the literature to account for the etiology of congenital scoliosis and the vertebral anomalies which contribute to its development. The study of scoliosis in twins has contributed to the understanding of causative factors including genetics, environmen...

Evaluation of pediatric spinal deformity requires knowledge of special orthopaedic testing and radiographic interpretation. The determination of recommendations for treatment of spinal abnormalities in children can be challenging and at times complex, as treatment options are dependent upon a variety of factors. The etiology of scoliosis or kyphosis, presence or absence of vertebral anomalies, ...

Costovertebral dysplasia comprises multiple malformations of the vertebrae and ribs, with a characteristic clinical picture of short trunk dwarfism, short neck, scoliosis, and rib cage deformity. We describe two sibs with the syndrome who are presumed to represent the autosomal recessive form of the disorder. One sib died from a malignant cerebral tumour and the association may be more than for...

The spondylocostal dysostosis (SCD) is one of the two major clinico-radiological subtypes of the Jarcho-Levin syndrome (JLS). The JLS is a rare heterogeneous entity characterized by facial dysmorphism, short-neck, short-trunk, normal sizes limbs, with multiple vertebral anomalies at all levels of the vertebral column and costal defects. The JLS has been classified into 2 major clinical phenotyp...

OBJECTIVE The aim of this study was to perform a detailed tomographic analysis of the skull base, craniocervical junction, and the entire spine in seven patients with spondylocostal dysostosis syndrome. METHOD Detailed scanning images have been organized in accordance with the most prominent clinical pathology. The reasons behind plagiocephaly, torticollis, short immobile neck, scoliosis and ...

VACTERL association [3] is a term applied to a specific group of abnormalities involving structures derived from the mesoderm [4]. Although the defects of this disorder are clearly linked, VACTERL is called an association rather than a syndrome because the exact genetic cause is unknown. ?VACTERL? is an acronym, each letter standing for one of the defects associated with the condition: V for ve...

Goldenhar syndrome is a rare developmental disorder characterised by hemifacial microsomia, epibulbar tumours, ear malformation, and vertebral anomalies. As monozygotic (MZ) twins are believed to be genetically identical, discordance for disease phenotype between MZ twins varies with craniofacial anomalies, cardiac, vertebral, and central nervous system defects sporadically. We report a case of...

Duplications of the oesophagus are rare congenital abnormalities and rarely communicate with the oesophageal lumen. They are commonly associated with other congenital malformations, such as spinal deformities, congenital heart disease, vertebral anomalies, malrotation of the bowel, Meckel's diverticulum. During a percutaneous endoscopic gastrostomy, performed because of a neurological dysphagia...