VACTERL association (OMIM 192350) is a non-random combination of multiple congenital malformations including vertebral, anal, cardiac, tracheoesophageal, renal and limb anomalies. The wide spectrum of defects suggests the occurrence of defective development during early embryogenesis. The authors report a case of a complex polymalformative association detected by ultrasound in the first trimest...

Mediastinal enteric cysts are a rare occurrence among adults and are usually asymptomatic. In most cases they are an incidental finding in the right hemi-mediastinum and are associated with vertebral anomalies. We report the unusual case of a 23 year old male who had a mediastinal mass on chest X-ray as an incidental finding. Chest Computed Tomography (CT) scan revealed no vertebral anomalies a...

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...

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.

OBJECTIVE A long-term retrospective analysis of 103 infants with anorectal malformations (ARMs) was conducted to describe any associated congenital anomalies and surgical classifications. DESIGN Retrospective medical record review. SETTING This case series was conducted on all infants with ARMs born at, or referred to, any of 3 major medical centers in Wichita, Kan, for close to a 22-year p...

Oculo-auriculo-vertebral (OAV) spectrum summarizes a continuum of ocular, auricular, and vertebral anomalies. Goldenhar syndrome is a variant of this spectrum and is characterized by pre-auricular skin tags, microtia, facial asymmetry, ocular abnormalities, and vertebral anomalies of different sizes and shapes. Most cases are thought to be sporadic. However, a few families were reported to have...

Despite the high prevalence and significant morbidity of spinal anomalies in neurofibromatosis type 1 (NF1), the pathogenesis of these defects remains largely unknown. Here, we present two murine models: Nf1flox/-;PeriCre and Nf1flox/-;Col.2.3Cre mice, which recapitulate spinal deformities seen in the human disease. Dynamic histomorphometry and microtomographic studies show recalcitrant bone re...

Introduction: A retrospective study of 109 children with anorectal malformations (ARMs) was performed to find the incidence of associated congenital anomalies. Material and methods: 109 consecutive children with ARMs were treated between 1992 and 2008. Analysis included sex, duration of pregnancy, body weight at birth and APGAR score, type of ARM and any associated anomalies. Anorectal malforma...

PURPOSE Congenital malformations of the bony vertebral column are often accompanied by spinal cord anomalies; these observations have been reinforced with the use of magnetic resonance imaging (MRI). We hypothesized that the incidence of cord anomalies will increase as the number and complexity of bony vertebral abnormalities increases. METHODS All patients aged ≤13 years (n = 75) presenting ...

In 1938, Jarcho and Levin1 first described a syndrome of congenital abnormalities affecting the spine and the thorax. The syndrome described a spectrum of radiological and skeletal anomalies including abnormal vertebral segmentation or formation defects, rib deformities and short trunk dwarfism. In 1978, Solomon et al2 subdivided patients with the above features into 2 distinct phenotypes: spon...